Reviews
on intellectual disability in German
Andreas Tzschach
Genetik
der nichtsyndromalen geistigen Behinderung
medgen 2009 21:231-236
Andreas Tzschach, Hans-Hilger Ropers
Genetik
der mentalen Retardierung
Deutsches Ärzteblatt (2007) Jg. 104 Heft 20 Seite B1249-1254
Andreas Tzschach, Hans-Hilger Ropers
X-chromosomale
mentale Retardierung
medgen 2006 18:187-193
Andreas Tzschach, Hans-Hilger Ropers:
Genetische Ursachen der mentalen Retardierung
Kinderärztliche Praxis 77 (2006) Seite 260-264
Publications
(PubMed, 17/03/2018)
Sema3a plays a role in
the pathogenesis of CHARGE syndrome.
Ufartes R, Schwenty-Lara J, Freese
L, Neuhofer C, Möller J, Wehner P, van Ravenswaaij-Arts CMA, Wong MTY, Schanze
I, Tzschach A, Bartsch O, Borchers A, Pauli S.
Hum Mol Genet. 2018
Feb 8. doi: 10.1093/hmg/ddy045. [Epub ahead of
print]
Genetics
of intellectual disability in consanguineous families.
Hu H, Kahrizi K, Musante L, Fattahi
Z, Herwig R, Hosseini M, Oppitz C, Abedini SS, Suckow V, Larti F, Beheshtian M,
Lipkowitz B, Akhtarkhavari T, Mehvari S, Otto S, Mohseni M, Arzhangi S, Jamali
P, Mojahedi F, Taghdiri M, Papari E, Soltani Banavandi MJ, Akbari S, Tonekaboni
SH, Dehghani H, Ebrahimpour MR, Bader I, Davarnia B, Cohen M, Khodaei H,
Albrecht B, Azimi S, Zirn B, Bastami M, Wieczorek D, Bahrami G, Keleman K,
Vahid LN, Tzschach A, Gärtner J, Gillessen-Kaesbach G, Varaghchi JR,
Timmermann B, Pourfatemi F, Jankhah A, Chen W, Nikuei P, Kalscheuer VM,
Oladnabi M, Wienker TF, Ropers HH, Najmabadi H.
Mol
Psychiatry. 2018 Jan 4. doi:
10.1038/s41380-017-0012-2. [Epub ahead of
print]
Schmelzer
L, Smitka M, Wolf C, Lucas N, Tüngler V, Hahn G, Tzschach A, Di Donato
N, Lee-Kirsch MA, von der Hagen M.
Eur J Paediatr Neurol. 2017 Nov 22. pii: S1090-3798(17)31719-1. doi:
10.1016/j.ejpn.2017.11.003. [Epub ahead of print]
Gieldon L, Masjkur JR, Richter S,
Därr R, Lahera M, Aust DE, Zeugner S, Rump A, Hackmann K, Tzschach A,
Januszewicz A, Prejbisz A, Eisenhofer G, Schroeck E, Robledo M, Klink B.
Eur J Endocrinol. 2017 Nov 20. pii:
EJE-17-0714. doi: 10.1530/EJE-17-0714. [Epub ahead of print]
Skewed X-inactivation in a family
with DLG3-associated X-linked intellectual disability.
Gieldon L, Mackenroth L,
Betcheva-Krajcir E, Rump A, Beck-Wödl S, Schallner J, Di Donato N, Schröck E, Tzschach
A.
Am J Med Genet A. 2017 Sep;173(9):2545-2550. doi:
10.1002/ajmg.a.38348.
Porrmann J, Betcheva-Krajcir E, Di
Donato N, Kahlert AK, Schallner J, Rump A, Schröck E, Dobritzsch D, Roelofsen
J, van Kuilenburg ABP, Tzschach A.
Am J Med Genet A. 2017 Oct;173(10):2736-2742. doi:
10.1002/ajmg.a.38359.
de Carvalho LM, Ngoumou G, Park JW,
Ehmke N, Deigendesch N, Kitabayashi N, Melki I, Souza FFL, Tzschach A,
Nogueira-Barbosa MH, Ferriani V, Louzada-Junior P, Marques W Jr, Lourenço CM,
Horn D, Kallinich T, Stenzel W, Hur S, Rice GI, Crow YJ.
Arthritis Rheumatol. 2017 Oct;69(10):2081-2091.
doi: 10.1002/art.40179.
Pierpont syndrome: report of a new patient.
Kahlert AK, Weidensee S, Mackenroth
L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A.
Clin Dysmorphol. 2017 Oct;26(4):205-208. doi:
10.1097/MCD.0000000000000184.
Musante L, Püttmann L, Kahrizi K,
Garshasbi M, Hu H, Stehr H, Lipkowitz B, Otto S, Jensen LR, Tzschach A,
Jamali P, Wienker T, Najmabadi H, Ropers HH, Kuss AW.
Hum Mutat. 2017 Jun;38(6):621-636. doi:
10.1002/humu.23205.
The molecular and phenotypic
spectrum of IQSEC2-related epilepsy.
Zerem A, Haginoya K, Lev D, Blumkin
L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D,
Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O,
Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach
A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T.
Epilepsia. 2016 Nov;57(11):1858-1869.
doi: 10.1111/epi.13560.
Hackmann K, Kuhlee F,
Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach
A, Kast K, Wimberger P, Schrock E, Rump A.
Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi:
10.1007/s10549-016-3956-z.
Busch
A, Hoffjan S, Bergmann F, Hartung B, Jung H, Hanel D, Tzschach A, Kadar
J, von Kodolitsch Y, Germer CT, Trobisch H, Strasser E, Wildenauer R.
Orphanet J Rare Dis. 2016 Aug 3;11(1):111. doi:
10.1186/s13023-016-0491-2.
Bögershausen N, Gatinois V, Riehmer
V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu
NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez
E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C,
Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H,
Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A,
Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G,
Wollnik B.
Hum Mutat. 2016 Sep;37(9):847-64. doi:
10.1002/humu.23026.
Chromosome aberration associated with hippocampal
impairment.
Haussmann R, Meissner G, Linn J,
Hackmann K, Betcheva-Krajcir E, Tzschach A, Donix M.
Psychiatry Res. 2016 Aug 30;254:1-2. doi:
10.1016/j.pscychresns.2016.05.007. No abstract available.
Mackenroth
L, Hackmann K, Klink B, Weber JS, Mayer B, Schröck E, Tzschach A.
Am J Med Genet A. 2016 Sep;170(9):2394-9. doi:
10.1002/ajmg.a.37785.
Epilepsy is not a mandatory feature of STXBP1
associated ataxia-tremor-retardation syndrome.
Gburek-Augustat J, Beck-Woedl S, Tzschach
A, Bauer P, Schoening M, Riess A.
Eur J Paediatr Neurol. 2016 Jul;20(4):661-5. doi: 10.1016/j.ejpn.2016.04.005.
BOD1 Is Required for Cognitive Function in
Humans and Drosophila.
Esmaeeli-Nieh S, Fenckova M, Porter
IM, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Weißmann R, Behjati
F, Tzschach A, Felbor U, Scherthan H, Sayfati SM, Ropers HH, Kahrizi K,
Najmabadi H, Swedlow JR, Schenck A, Kuss AW.
PLoS Genet. 2016 May 11;12(5):e1006022. doi:
10.1371/journal.pgen.1006022.
Novel ADAMTSL2-mutations in a patient with
geleophysic dysplasia type I.
Mackenroth L, Rump A, Lorenz P,
Schröck E, Tzschach A.
Clin Dysmorphol. 2016 Jul;25(3):106-9. doi:
10.1097/MCD.0000000000000124. No abstract available.
STXBP1 encephalopathy:
A neurodevelopmental disorder including epilepsy.
Stamberger H, Nikanorova M,
Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V,
Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M,
Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL,
Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A,
Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J,
Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach
A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M,
Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen
S.
Neurology. 2016 Mar 8;86(10):954-62.
doi: 10.1212/WNL.0000000000002457. Review.
Tentative
clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different
genetic entities?
Hackmann K, Rump A, Haas SA, Lemke
JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger
T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.
Am J Med Genet A. 2016 Jan;170A(1):94-102. doi:
10.1002/ajmg.a.37378.
Heidari A, Tongsook C, Najafipour R,
Musante L, Vasli N, Garshasbi M, Hu H, Mittal K, McNaughton AJ, Sritharan K,
Hudson M, Stehr H, Talebi S, Moradi M, Darvish H, Arshad Rafiq M, Mozhdehipanah
H, Rashidinejad A, Samiei S, Ghadami M, Windpassinger C, Gillessen-Kaesbach G, Tzschach
A, Ahmed I, Mikhailov A, Stavropoulos DJ, Carter MT, Keshavarz S, Ayub M,
Najmabadi H, Liu X, Ropers HH, Macheroux P, Vincent JB.
Hum Mol Genet. 2015 Oct 15;24(20):5697-710. doi:
10.1093/hmg/ddv286.
Interstitial
1p32.1p32.3 deletion in a patient with multiple congenital anomalies.
Kehrer M, Schäferhoff K, Bonin M, Jauch A, Bevot A, Tzschach
A.
Am J Med Genet A. 2015 Oct;167A(10):2406-10. doi:
10.1002/ajmg.a.37178.
Congenital
CLN disease in two siblings.
Meyer S, Yilmaz U, Kim YJ, Steinfeld
R, Meyberg-Solomayer G, Oehl-Jaschkowitz B, Tzschach A, Gortner L, Igel
J, Schofer O.
Wien Med
Wochenschr. 2015 May;165(9-10):210-3. doi:
10.1007/s10354-015-0359-4.
Kehrer M, Liehr T,
Benkert T, Singer S, Grasshoff U, Schaeferhoff K, Bonin M, Weichselbaum A, Tzschach
A.
Am J Med Genet A. 2015 Mar;167(3):653-6. doi:
10.1002/ajmg.a.36943.
Next-generation
sequencing in X-linked intellectual disability.
Tzschach A, Grasshoff U, Beck-Woedl S, Dufke
C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald
R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J,
Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O,
Bauer P.
Eur J Hum Genet. 2015 Nov;23(11):1513-8. doi: 10.1038/ejhg.2015.5. Epub 2015 Feb 4.
X-exome sequencing of
405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H,
Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F,
Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M,
Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L,
Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA,
Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE,
Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel
A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G,
Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B,
Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez
Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L,
Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP,
Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A,
van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM.
Mol Psychiatry. 2016 Jan;21(1):133-48. doi:
10.1038/mp.2014.193. Epub 2015 Feb 3.
Variants in CUL4B are
Associated with Cerebral Malformations.
Vulto-van Silfhout AT, Nakagawa T,
Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach
A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F,
Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D,
Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U,
Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van
Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ,
Kalscheuer VM, Kleefstra T, de Brouwer AP.
Hum Mutat. 2015 Jan;36(1):106-17. doi:
10.1002/humu.22718.
CNS involvement in
OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E, Macca M, Imperati F,
D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V,
Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative
Group.
Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74.
Oehl-Jaschkowitz B, Vanakker OM, De
Paepe A, Menten B, Martin T, Weber G, Christmann A, Krier R, Scheid S, McNerlan
SE, McKee S, Tzschach A.
Am J Med Genet A. 2014 Mar;164A(3):620-6. doi:
10.1002/ajmg.a.36321. Epub 2013 Dec 19.
Dreha-Kulaczewski S, Kalscheuer V, Tzschach
A, Hu H, Helms G, Brockmann K, Weddige A, Dechent P, Schlüter G, Krätzner R,
Ropers HH, Gärtner J, Zirn B.
JIMD Rep. 2014;13:91-9. doi:
10.1007/8904_2013_261. Epub 2013 Nov 5.
De novo partial deletion in GRID2 presenting
with complicated spastic paraplegia.
Maier A, Klopocki E, Horn D, Tzschach
A, Holm T, Meyer R, Meyer T.
Muscle Nerve. 2014 Feb;49(2):289-92. doi:
10.1002/mus.24096. Epub 2013 Dec 16.
Czeschik JC, Bauer P, Buiting K,
Dufke C, Guillén-Navarro E, Johnson DS, Koehler U, López-González V, Lüdecke
HJ, Male A, Morrogh D, Rieß A, Tzschach A, Wieczorek D, Kuechler A.
Orphanet J Rare Dis. 2013 Sep
21;8:146. doi: 10.1186/1750-1172-8-146.
PIK3R1 mutations in SHORT syndrome.
Schroeder C, Riess A, Bonin M, Bauer
P, Riess O, Döbler-Neumann M, Wieser S, Moog U, Tzschach A.
Clin Genet. 2014 Sep;86(3):292-4. doi:
10.1111/cge.12263. Epub 2013 Oct 17.
Püttmann L, Stehr H, Garshasbi M, Hu
H, Kahrizi K, Lipkowitz B, Jamali P, Tzschach A, Najmabadi H, Ropers HH,
Musante L, Kuss AW.
Am J Med Genet A. 2013 Aug;161A(8):1915-22. doi:
10.1002/ajmg.a.36030. Epub 2013 Jul 4.
Floating-Harbor syndrome: SRCAP mutations are
not restricted to exon 34.
Kehrer M, Beckmann A, Wyduba J,
Finckh U, Dufke A, Gaiser U, Tzschach A.
Clin Genet. 2014 May;85(5):498-9. doi:
10.1111/cge.12199. Epub
2013 Jun 13.
A
Newly Recognized Autosomal Recessive Syndrome Affecting Neurologic Function and
Vision.
Salih MA, Tzschach A,
Oystreck DT, Hassan HH, Aldrees A, Elmalik SA, El Khashab HY, Wienker TF,
Abu-Amero KK, Bosley TM.
Am J Med Genet A. 2013 Jun;161A(6):1207-13. doi:
10.1002/ajmg.a.35850. Epub 2013 Apr 30.
Goubau C, Devriendt K, Van der Aa N,
Crepel A, Wieczorek D, Kleefstra T, Willemsen MH, Rauch A, Tzschach A,
de Ravel T, Leemans P, Van Geet C, Buyse G, Freson K.
Eur
J Hum Genet. 2013
Dec;21(12):1349-55. doi: 10.1038/ejhg.2013.86. Epub
2013 May 1.
12q24.33
Deletion: Report of a Patient With Intellectual
Disability and Review of the Literature.
Kehrer
M, Singer S, Grasshoff U, Schäferhoff K, Bonin M, Riess O, Schöning M, Tzschach
A.
Am J Med Genet A. 2013 Jun;161A(6):1409-13. doi:
10.1002/ajmg.a.35877. Epub
2013 Apr 23. Review.
Xq22.3-q23
deletion including ACSL4 in a patient with intellectual disability.
Gazou A, Riess A, Grasshoff U, Schäferhoff
K, Bonin M, Jauch A, Riess O, Tzschach A.
Am J Med Genet A. 2013 Apr;161(4):860-4. doi:
10.1002/ajmg.a.35778. Epub 2013 Mar 12.
Neeve VC, Pyle A, Boczonadi V,
Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A,
Chinnery PF, Horvath R.
Mitochondrion. 2013
Nov;13(6):743-8. doi: 10.1016/j.mito.2013.03.002. Epub 2013 Mar 14.
Kunde
SA, Rademacher N, Tzschach A, Wiedersberg E, Ullmann R, Kalscheuer VM,
Shoichet SA.
Hum Genet. 2013 Apr;132(4):461-71. doi:
10.1007/s00439-012-1260-5. Epub 2013 Jan 18.
Mirror-image
asymmetry in monozygotic twins with kabuki syndrome.
Riess A, Dufke A, Riess O,
Beck-Woedl S, Fode B, Skladny H, Klaes R, Tzschach A.
Mol Syndromol. 2012 Aug;3(2):94-7.
doi: 10.1159/000341251. Epub 2012 Jul 25.
Rump
A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D.
Eur
J Hum Genet. 2013
Aug;21(8):887-90. doi: 10.1038/ejhg.2012.267. Epub
2012 Dec 12.
Neubert
G, von Au K, Drossel K, Tzschach A, Horn D, Nickel R, Kaindl AM.
Gene. 2013 Jan 10;512(2):453-5.
doi: 10.1016/j.gene.2012.10.061. Epub 2012 Nov 1.
Kohlschütter-Tönz
syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Tucci A, Kara E, Schossig A, Wolf
NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S,
Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach
A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE,
Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H.
Hum
Mutat. 2013 Feb;34(2):296-300. doi:
10.1002/humu.22241. Epub 2012 Nov 27.
Rauch A, Wieczorek D, Graf E,
Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato
N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U,
Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici
AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H,
Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM.
Lancet. 2012 Nov 10;380(9854):1674-82.
doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27. Review.
A noncoding,
regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Huang L, Jolly LA, Willis-Owen S,
Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A,
Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM,
Corbett MA, Gecz J.
Am J Hum Genet. 2012 Oct 5;91(4):694-702.
doi: 10.1016/j.ajhg.2012.08.011. Epub 2012 Sep 20.
Interstitial
3p25.3-p26.1 deletion in a patient with intellectual disability.
Riess A, Grasshoff U, Schäferhoff K,
Bonin M, Riess O, Horber V, Tzschach A.
Am J Med Genet A. 2012 Oct;158A(10):2587-90. doi:
10.1002/ajmg.a.35562. Epub 2012 Sep 10.
Novel
SLC9A6 mutations in two families with Christianson syndrome.
Riess A, Rossier E, Krüger R, Dufke
A, Beck-Woedl S, Horber V, Alber M, Gläser D, Riess O, Tzschach A.
Clin Genet. 2013 Jun;83(6):596-7. doi:
10.1111/j.1399-0004.2012.01948.x. Epub 2012 Aug 30.
Tzschach A, Grasshoff U, Schäferhoff K, Bonin
M, Dufke A, Wolff M, Haas-Lude K, Bevot A, Riess O.
Am J Med Genet A. 2012 Jul;158A(7):1709-12. doi:
10.1002/ajmg.a.35398. Epub 2012 May 25.
Mutations in
NSUN2 cause autosomal-recessive intellectual disability.
Abbasi-Moheb L, Mertel S, Gonsior M,
Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S,
Cremer K, Weißmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H,
Ropers HH, Sigrist SJ, Kuss AW.
Am J Hum Genet. 2012 May 4;90(5):847-55.
doi: 10.1016/j.ajhg.2012.03.021. Epub 2012 Apr 26.
Parental
origin of de novo cytogenetically balanced reciprocal non-Robertsonian
translocations.
Höckner M, Spreiz A, Frühmesser A, Tzschach
A, Dufke A, Rittinger O, Kalscheuer V, Singer S, Erdel M, Fauth C,
Grossmann V, Utermann G, Zschocke J, Kotzot D.
Cytogenet Genome Res. 2012;136(4):242-5. doi:
10.1159/000337923. Epub 2012 Apr 18.
Novel
WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner
syndrome).
Hoffer JL, Fryssira H,
Konstantinidou AE, Ropers HH, Tzschach A.
Clin Genet. 2013 Jan;83(1):92-5. doi:
10.1111/j.1399-0004.2012.01880.x. Epub 2012 Apr 9.
Novel
GDI1 mutation in a large family with nonsyndromic X-linked intellectual
disability.
Strobl-Wildemann
G, Kalscheuer VM, Hu H, Wrogemann K, Ropers HH, Tzschach A.
Am J Med Genet A. 2011 Dec;155A(12):3067-70. doi:
10.1002/ajmg.a.34291. Epub 2011 Oct 14.
Deep
sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H, Hu H, Garshasbi M,
Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha
A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F,
Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B,
Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi
Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J,
Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A,
Kahrizi K, Ropers HH.
Nature. 2011 Sep 21;478(7367):57-63. doi:
10.1038/nature10423.
Isolated NIBPL
missense mutations that cause Cornelia de Lange syndrome alter MAU2
interaction.
Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi
MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A,
Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J,
Krantz ID, Deardorff MA, Kaiser FJ.
Eur
J Hum Genet. 2012 Mar;20(3):271-6. doi:
10.1038/ejhg.2011.175. Epub 2011 Sep 21. Erratum in: Eur J Hum Genet. 2012
Mar;20(3):366.
Christianson syndrome in a patient with an interstitial
Xq26.3 deletion.
Tzschach
A, Ullmann R, Ahmed A, Martin T, Weber
G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B.
Am J Med Genet A. 2011 Nov;155A(11):2771-4. doi:
10.1002/ajmg.a.34230. Epub 2011 Sep 19.
ST3GAL3
mutations impair the development of higher cognitive functions.
Hu H, Eggers K, Chen W, Garshasbi M,
Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I,
Hucho T, Mühlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW.
Am
J Hum Genet. 2011 Sep 9;89(3):407-14. doi:
10.1016/j.ajhg.2011.08.008.
Rafiq MA, Kuss AW, Puettmann L, Noor
A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE,
Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub
M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H.
Am
J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006.
Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):348.
Garshasbi
M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H, Tzschach
A, Ropers HH, Najmabadi H, Kuss AW.
Am J Med Genet A. 2011 Aug;155A(8):1976-80. doi:
10.1002/ajmg.a.34077. Epub 2011 Jul 7.
Pak C, Garshasbi M, Kahrizi K, Gross
C, Apponi LH, Noto JJ, Kelly SM, Leung SW, Tzschach A, Behjati F,
Abedini SS, Mohseni M, Jensen LR, Hu H, Huang B, Stahley SN, Liu G, Williams
KR, Burdick S, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett
AH, Moberg KH, Kuss AW.
Proc Natl Acad Sci U S A. 2011 Jul
26;108(30):12390-5. doi:
10.1073/pnas.1107103108. Epub 2011 Jul 6.
Rademacher N, Hambrock M, Fischer U,
Moser B, Ceulemans B, Lieb W, Boor R, Stefanova I, Gillessen-Kaesbach G, Runge
C, Korenke GC, Spranger S, Laccone F, Tzschach A, Kalscheuer VM.
Neurogenetics. 2011 May;12(2):165-7.
doi: 10.1007/s10048-011-0277-6. Epub 2011 Feb 12.
Jensen LR, Chen W, Moser B, Lipkowitz
B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud
M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz
J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW.
Eur
J Hum Genet. 2011 Jun;19(6):717-20. doi:
10.1038/ejhg.2010.244. Epub 2011 Jan 26.
Pagan C, Botros HG, Poirier K,
Dumaine A, Jamain S, Moreno S, de Brouwer A, Van Esch H, Delorme R, Launay JM, Tzschach
A, Kalscheuer V, Lacombe D, Briault S, Laumonnier F, Raynaud M, van Bon BW,
Willemsen MH, Leboyer M, Chelly J, Bourgeron T.
BMC Med Genet. 2011 Jan 20;12:17.
doi: 10.1186/1471-2350-12-17.
Kuss AW, Garshasbi M, Kahrizi K, Tzschach
A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R,
Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R,
Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G,
Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH,
Najmabadi H.
Hum Genet. 2011 Feb;129(2):141-8. doi:
10.1007/s00439-010-0907-3. Epub 2010 Nov 10.
A
clinical and molecular genetic study of 112 Iranian families with primary
microcephaly.
Darvish H, Esmaeeli-Nieh S, Monajemi
GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S,
Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ,
Ghani-Kakhi M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel
H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H.
J Med Genet. 2010 Dec;47(12):823-8.
doi: 10.1136/jmg.2009.076398. Epub 2010 Oct 26.
Cohen
syndrome diagnosis using whole genome arrays.
Rivera-Brugués N, Albrecht B,
Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A,
Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M.
J Med Genet. 2011 Feb;48(2):136-40.
doi: 10.1136/jmg.2010.082206. Epub 2010 Oct 4.
11q14.1-11q22.1
deletion in a 1-year-old male with minor dysmorphic features.
Kariminejad A, Kariminejad R, Tzschach
A, Najafi H, Ahmed A, Ullmann R, Ropers HH, Kariminejad MH.
Am J Med Genet A. 2010 Oct;152A(10):2651-5. doi:
10.1002/ajmg.a.33623.
Kahrizi K, Hu CH, Garshasbi M,
Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW,
Najmabadi H, Tzschach A.
Eur J Hum Genet. 2011 Jan;19(1):115-7.
doi: 10.1038/ejhg.2010.132. Epub 2010 Aug 11.
Shafeghati Y, Kahrizi K, Najmabadi
H, Kuss AW, Ropers HH, Tzschach A.
Eur J Pediatr. 2010 Dec;169(12):1535-9. doi:
10.1007/s00431-010-1267-7. Epub 2010 Jul 27. Review.
Hu H, Wrogemann K, Kalscheuer V, Tzschach
A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van
Bokhoven H, Chelly J, Ropers H, Chen W.
Hugo J. 2009 Dec;3(1-4):83.
doi: 10.1007/s11568-010-9142-1. Epub 2010 Apr 11.
Walczak-Sztulpa J, Eggenschwiler J,
Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach
A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL,
Ropers HH, Latos-Bielenska A, Kuss AW.
Am
J Hum Genet. 2010 Jun 11;86(6):949-56. doi:
10.1016/j.ajhg.2010.04.012. Epub 2010 May 20.
Budny B, Badura-Stronka M,
Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH.
Clin Genet. 2010 Jun;77(6):541-51. doi:
10.1111/j.1399-0004.2010.01429.x. Epub 2010 Apr 19.
Tzschach
A, Menzel C, Erdogan F, Istifli ES,
Rieger M, Ovens-Raeder A, Macke A, Ropers HH, Ullmann R, Kalscheuer V.
Am J Med Genet A. 2010 Apr;152A(4):1008-12. doi:
10.1002/ajmg.a.33343.
Jensen LR, Bartenschlager H,
Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S,
Raynaud M, Nelson J, Hackett A, Fryns JP, Chelly J, de Brouwer AP, Hamel B,
Gecz J, Ropers HH, Kuss AW.
Pathogenetics. 2010 Feb 2;3(1):2.
doi: 10.1186/1755-8417-3-2.
Giannandrea M, Bianchi V, Mignogna
ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L,
Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C,
Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D,
D'Adamo P.
Am
J Hum Genet. 2010 Feb 12;86(2):185-95. doi:
10.1016/j.ajhg.2010.01.011.
Mir A, Kaufman L, Noor A, Motazacker
MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach
A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub
M, Vincent JB.
Am
J Hum Genet. 2009 Dec;85(6):909-15. doi:
10.1016/j.ajhg.2009.11.009.
Breakpoint
analysis of balanced chromosome rearrangements by next-generation paired-end
sequencing.
Chen W, Ullmann R, Langnick C,
Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A,
Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, van
Ravenswaaij-Arts CM, Kleefstra T, Kalscheuer VM, Ropers HH.
Eur J Hum Genet. 2010 May;18(5):539-43.
doi: 10.1038/ejhg.2009.211. Epub 2009 Dec 2.
Hu H, Wrogemann K, Kalscheuer V, Tzschach
A, Richard H, Haas SA, Menzel C, Bienek M, Froyen G, Raynaud M, Van
Bokhoven H, Chelly J, Ropers H, Chen W.
Hugo J. 2009 Dec;3(1-4):41-9.
doi: 10.1007/s11568-010-9137-y. Epub 2010 Mar 25.
Tzschach A, Bisgaard AM, Kirchhoff M,
Graul-Neumann LM, Neitzel H, Page S, Ahmed A, Müller I, Erdogan F, Ropers HH,
Kalscheuer VM, Ullmann R.
Eur J Hum Genet. 2010 Mar;18(3):291-5.
doi: 10.1038/ejhg.2009.163. Epub 2009 Oct 21.
Kariminejad A, Kariminejad R, Tzschach
A, Ullmann R, Ahmed A, Asghari-Roodsari A, Salehpour S, Afroozan F, Ropers
HH, Kariminejad MH.
Am J Med Genet A. 2009 Jul;149A(7):1544-9. doi:
10.1002/ajmg.a.32949.
Graul-Neumann
LM, Stieler KM, Blume-Peytavi U, Tzschach A.
Am J Med Genet A. 2009 Feb 15;149A(4):746-50. doi:
10.1002/ajmg.a.32728.
Tzschach
A, Graul-Neumann LM, Konrat K,
Richter R, Ebert G, Ullmann R, Neitzel H.
Am J Med Genet A. 2009 Feb;149A(2):242-5. doi:
10.1002/ajmg.a.32637. Review.
Expanded
mutational spectrum in Cohen syndrome, tissue expression, and transcript
variants of COH1.
Seifert W, Holder-Espinasse M,
Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss
A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K,
Apse K, Hennies HC, Horn D.
Hum
Mutat. 2009 Feb;30(2):E404-20. doi: 10.1002/humu.20886.
Lugtenberg D, Kleefstra T, Oudakker
AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H,
Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke
D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van
Bokhoven H, de Brouwer AP.
Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub
2008 Nov 5. Erratum in: Eur J Hum Genet. 2009 May;17(5):697.
Multiple
giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous
syndrome.
Neumann TE, Allanson J, Kavamura I,
Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein
M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R,
Peters H, Tartaglia M, Zenker M, Kalscheuer V.
Eur J Hum Genet. 2009 Apr;17(4):420-5. doi:
10.1038/ejhg.2008.188. Epub 2008 Oct 15.
Kahrizi K, Najmabadi H, Kariminejad
R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A.
Eur J Hum Genet. 2009 Jan;17(1):125-8.
doi: 10.1038/ejhg.2008.159. Epub 2008 Sep 10.
Erdogan F, Larsen LA, Zhang L, Tümer
Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A,
Ropers HH, Ullmann R.
J Med Genet. 2008 Nov;45(11):704-9.
doi: 10.1136/jmg.2008.058776. Epub 2008 Aug 19.
Alopecia-mental
retardation syndrome: clinical and molecular characterization of four patients.
Tzschach A, Bozorgmehr B, Hadavi V, Kahrizi K,
Garshasbi M, Motazacker MM, Ropers HH, Kuss AW, Najmabadi H.
Br J Dermatol. 2008 Sep;159(3):748-51.
doi: 10.1111/j.1365-2133.2008.08719.x. Epub 2008 Jul
4. No abstract available.
Kalscheuer VM, Musante L, Fang C,
Hoffmann K, Fuchs C, Carta E, Deas E, Venkateswarlu K, Menzel C, Ullmann R,
Tommerup N, Dalprà L, Tzschach A, Selicorni A, Lüscher B, Ropers HH,
Harvey K, Harvey RJ.
Hum Mutat. 2009 Jan;30(1):61-8. doi:
10.1002/humu.20814.
Czech
dysplasia: report of a large family and further delineation of the phenotype.
Tzschach
A, Tinschert S, Kaminsky E, Lusga E,
Mundlos S, Graul-Neumann LM.
Am J Med Genet A. 2008 Jul 15;146A(14):1859-64. doi:
10.1002/ajmg.a.32389.
Prattichizzo C, Macca M, Novelli V,
Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative
Group.
Hum Mutat. 2008 Oct;29(10):1237-46. doi:
10.1002/humu.20792.
A defect in
the TUSC3 gene is associated with autosomal recessive mental retardation.
Garshasbi M, Hadavi V, Habibi H,
Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH,
Kuss AW.
Am J Hum Genet. 2008 May;82(5):1158-64.
doi: 10.1016/j.ajhg.2008.03.018. Epub 2008 May 1.
Frints SG, Lenzner S, Bauters M,
Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K,
Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van
Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M,
Ropers HH, Froyen G, Kuss AW.
Eur
J Hum Genet. 2008 Sep;16(9):1029-37. doi:
10.1038/ejhg.2008.66. Epub 2008 Apr 9.
Tzschach A, Kelbova C, Weidensee S, Peters H,
Ropers HH, Ullmann R, Erdogan F, Jurkatis J, Menzel C, Kalscheuer V, Demuth S.
Ophthalmic Genet. 2008 Mar;29(1):37-40.
doi: 10.1080/13816810701867615.
Mapping
translocation breakpoints by next-generation sequencing.
Chen W, Kalscheuer V, Tzschach A,
Menzel C, Ullmann R, Schulz MH, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares
IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser B,
Vingron M, Ropers HH.
Genome Res. 2008 Jul;18(7):1143-9. doi:
10.1101/gr.076166.108. Epub 2008 Mar 7.
Chromosome
deletions in 13q33-34: report of four patients and review of the literature.
Walczak-Sztulpa J, Wisniewska M,
Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V,
Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A.
Am J Med Genet A. 2008 Feb 1;146(3):337-42. doi:
10.1002/ajmg.a.32127. Review.
Characterization
of interstitial Xp duplications in two families by tiling path array CGH.
Tzschach A, Chen W, Erdogan F, Hoeller A,
Ropers HH, Castellan C, Ullmann R, Schinzel A.
Am J Med Genet A. 2008 Jan 15;146A(2):197-203.
Moheb LA, Tzschach A,
Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH,
Kuss AW.
Eur
J Hum Genet. 2008 Feb;16(2):270-3. Epub 2007 Nov 28.
Hypergonadotropic
hypogonadism in a patient with inv ins (2;4).
Tzschach
A, Ramel C, Kron A, Seipel B, Wüster
C, Cordes U, Liehr T, Hoeltzenbein M, Menzel C, Ropers HH, Ullmann R,
Kalscheuer V, Decker J, Steinberger D.
Int J Androl. 2009 Jun;32(3):226-30. Epub 2007 Nov 27.
Motazacker MM, Rost BR, Hucho T,
Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach
A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW.
Am J Hum Genet. 2007 Oct;81(4):792-8.
Epub 2007 Aug 31.
Radiation-induced
late effects in two affected individuals of the Lilo radiation accident.
Scherthan
H, Abend M, Müller K, Beinke C, Braselmann H, Zitzelsberger H, Köhn FM,
Pillekamp H, Schiener R, Das O, Peter RU, Herzog G, Tzschach A, Dörr HD,
Fliedner TM, Meineke V.
Radiat
Res. 2007 May;167(5):615-23.
Characterization
of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
Tzschach
A, Menzel C, Erdogan F, Schubert M,
Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V.
Am
J Med Genet A. 2007 Feb 15;143(4):333-7.
Mutation
frequencies of X-linked mental retardation genes in families from the EuroMRX
consortium.
de Brouwer AP, Yntema HG, Kleefstra
T, Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H, Frints
SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C,
Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, des Portes V,
Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR,
Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC.
Hum
Mutat. 2007 Feb;28(2):207-8.
Mutations
in autism susceptibility candidate 2 (AUTS2) in patients with mental
retardation.
Kalscheuer VM, FitzPatrick D,
Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA,
Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R.
Hum Genet. 2007 May;121(3-4):501-9. Epub 2007 Jan 9.
Erdogan F, Ullmann R, Chen W,
Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach
A.
Am J Med Genet A. 2007 Jan 15;143(2):172-8.
Najmabadi H, Motazacker MM,
Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh
SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM,
Grüters A, Lenzner S, Jensen LR, Rüschendorf F, Kuss AW, Ropers HH.
Hum
Genet. 2007 Mar;121(1):43-8. Epub 2006 Nov 21.
Jensen LR, Lenzner S, Moser B,
Freude K, Tzschach A, Wei C, Fryns JP, Chelly J, Turner G, Moraine C,
Hamel B, Ropers HH, Kuss AW.
Eur J Hum Genet. 2007 Jan;15(1):68-75.
Epub 2006 Sep 13.
Tzschach A, Hoeltzenbein M, Hoffmann K, Menzel
C, Beyer A, Ocker V, Wurster G, Raynaud M, Ropers HH, Kalscheuer V, Heilbronner
H.
Eur
J Hum Genet. 2006 Dec;14(12):1317-20. Epub 2006 Aug 23.
Budny B, Chen W, Omran H, Fliegauf
M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura
M, Lenzner S, Latos-Bielenska A, Ropers HH.
Hum
Genet. 2006 Sep;120(2):171-8. Epub 2006 Jun 17.
Molecular
cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
Tzschach A, Krause-Plonka I, Menzel C,
Knoblauch A, Toennies H, Hoeltzenbein M, Radke M, Ropers HH, Kalscheuer V.
Am J Med Genet A. 2006 May 15;140(10):1108-10.
Novel
JARID1C/SMCX mutations in patients with X-linked mental retardation.
Tzschach A, Lenzner S, Moser B, Reinhardt R,
Chelly J, Fryns JP, Kleefstra T, Raynaud M, Turner G, Ropers HH, Kuss A, Jensen
LR.
Hum Mutat. 2006 Apr;27(4):389.
A
novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis
vulgaris.
Yan KL, Zhang XJ, Wang ZM, Yang S,
Zhang GL, Wang J, Xiao FL, Gao M, Cui Y, Chen JJ, Fan X, Sun LD, Xia Q, Zhang
KY, Niu ZM, Xu SJ, Tzschach A, Ropers H, Huang W, Liu JJ.
J Invest Dermatol. 2006 May;126(5):1003-5.
Tzschach A, Krause-Plonka I, Menzel C,
Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers HH,
Hoeltzenbein M.
Am
J Med Genet A. 2006 Mar 1;140(5):496-502.
Molecular
characterization of a balanced chromosome translocation in psoriasis vulgaris.
Tzschach
A, Hoffmann K, Hoeltzenbein M, Bache I,
Tommerup N, Bommer C, Körner H, Kalscheuer V, Ropers HH.
Clin Genet. 2006 Feb;69(2):189-93. No abstract available.
Garshasbi M, Motazacker MM, Kahrizi
K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F,
Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S,
Kuss AW, Ropers HH, Najmabadi H.
Hum Genet. 2006 Feb;118(6):708-15. Epub 2005 Nov 26.
Jensen LR, Amende M, Gurok U, Moser
B, Gimmel V, Tzschach A, Janecke AR, Tariverdian G, Chelly J, Fryns JP,
Van Esch H, Kleefstra T, Hamel B, Moraine C, Gecz J, Turner G, Reinhardt R,
Kalscheuer VM, Ropers HH, Lenzner S.
Am
J Hum Genet. 2005 Feb;76(2):227-36. Epub 2004 Dec 7.
Mutations in
the polyglutamine binding protein 1 gene cause X-linked mental retardation.
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