|
Publications
Cranioectodermal Dysplasia, Sensenbrenner
syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
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. Epub 2010 May 20.
A
distinctive gene expression fingerprint in mentally retarded male
patients reflects disease-causing defects in the histone demethylase
KDM5C.
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.
Identification
of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding
protein, in nonsyndromic autosomal-recessive mental retardation.
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.
CA8 mutations cause a
novel syndrome characterized by ataxia and mild mental retardation with
predisposition to quadrupedal gait.
Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung
C, Kuss A, Humphrey N, Mundlos S, Robinson PN.
PLoS Genet. 2009
May;5(5):e1000487.
TMEM70 mutations cause
isolated ATP synthase deficiency and neonatal mitochondrial
encephalocardiomyopathy.
Cízková A, Stránecký V, Mayr JA,
Tesarová M, Havlícková V, Paul J, Ivánek R,
Kuss AW, Hansíková H, Kaplanová V, Vrbacký
M, Hartmannová H, Nosková L, Honzík T, Drahota Z,
Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S.
Nat Genet. 2008
Nov;40(11):1288-90.
An
autosomal recessive syndrome of severe mental retardation, cataract,
coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
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.
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.
MicroRNAs in brain
function and disease.
Kuss AW, Chen W.
Curr
Neurol Neurosci Rep. 2008 May;8(3):190-7.
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. Epub 2008 May 1.
A defect in the
ionotropic glutamate receptor 6 gene (GRIK2) is associated with
autosomal recessive mental retardation
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.
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464
patients with nonsyndromic X-linked mental retardation
Chen W, Jensen LR, Gecz J, Fryns JP, Moraine C,
de Brouwer A, Chelly J, Moser B, Ropers HH, Kuss AW.
Eur
J Hum Genet. 2007 Mar;15(3):375-8. Epub 2006 Dec 20.
Homozygosity
mapping in consanguineous families reveals extreme heterogeneity of
non-syndromic autosomal recessive mental retardation and identifies 8
novel gene loci
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.
X-linked mental
retardation: a comprehensive molecular screen of 47 candidate genes from
a 7.4 Mb interval in Xp11
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. 2006 Sep 13; [Epub ahead of print]
X-linked mental retardation: many genes for a complex disorder
Ropers HH.
Curr
Opin Genet Dev.
2006 Jun;16(3):260-9.
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 AW, Jensen LR.
Hum
Mutat. 2006 Apr;27(4):389.
SNP array-based homozygosity mapping reveals MCPH1 deletion in family
with autosomal recessive mental retardation and mild microcephaly
Garshasbi
M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE,
Firouzabadi SG, Becker C, Ruschendorf F, Nurnberg P, Tzschach A,
Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH,
Najmabadi H.
Hum Genet. 2005 Nov
26;:1-8
CGHPRO -- a
comprehensive data analysis tool for array CGH
Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R.
BMC Bioinformatics. 2005 Apr 5;6(1):85.
Mutations in the
JARID1C gene, which is involved in transcriptional regulation
and chromatin
remodeling, cause X-linked mental retardation
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.
X-linked mental retardation
Ropers HH, Hamel BC
Nat Rev Genet. 2005 Jan;6(1):46-57.
Mutations in the
FTSJ1 gene coding for a novel S-adenosylmethionine-binding
protein cause nonsyndromic
X-linked mental retardation
Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B,
Hamel
B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gecz J, Lenzner S,
Kalscheuer
VM, Ropers HH.
Am J Hum Genet. 2004 Aug;75(2):305-9. Epub
2004 May 25.
Mutations in the
polyglutamine binding protein 1 gene cause X-linked mental
retardation
Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gecz J,
Sefiani A,
Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A,
Tzschach
A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H,
Turner G,
Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C,
Scherthan H,
Lenzner S, Hamel BC, Schweiger S, Ropers HH.
Nat Genet. 2003 Dec;35(4):313-5. Epub 2003
Nov 23.
|
![[back to Human Molecular Genetics]](m2001_arrow_back.gif "[back to Human Molecular Genetics]"){kind=icon}
Human Molecular
Genetics
