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Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings.: A new syndrome?
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A de novo mutation affecting human TrkB associated with severe obesity and developmental delay
GSH Yeo et al.
NATURE NEUROSCIENCE (2004)
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome
SM White et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
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NATURE GENETICS (2004)
Comparative and basal genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
JB Li et al.
CELL (2004)
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
SJ Ansley et al.
NATURE (2003)
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
J Kolehmainen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Mutations in RAI1 associated with Smith-Magenis syndrome
RE Slager et al.
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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
C Dodé et al.
NATURE GENETICS (2003)
Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?
V Cormier-Daire et al.
JOURNAL OF MEDICAL GENETICS (2003)
Shashi XLMR syndrome:: Report of a second family
NHC Castro et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
JL Badano et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH
JM Milunsky et al.
CLINICAL GENETICS (2003)
Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome
KM Lower et al.
NATURE GENETICS (2002)
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
N Katsanis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder
E Leshinsky-Silver et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2002)
The behavioral impact of growth hormone treatment for children and adolescents with Prader-Willi syndrome: A 2-year, controlled study
BY Whitman et al.
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Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): A newly recognized autosomal recessive syndrome
PN Kantaputra et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
N Katsanis et al.
SCIENCE (2001)
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
K Mykytyn et al.
NATURE GENETICS (2001)
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
DY Nishimura et al.
HUMAN MOLECULAR GENETICS (2001)
Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain
T de los Santos et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15
C Färber et al.
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A new inherited interstitial deletion of the distal long arm of chromosome 4,{del(4)(q32 q33)}
SMS Aladhami et al.
HUMAN HEREDITY (2000)
Peculiar facies, obesity, cleft lip and palate, growth hormone deficiency and mental retardation: a new syndrome?
O Gabrielli et al.
CLINICAL DYSMORPHOLOGY (2000)
A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27
V Shashi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Mutations in MKKS cause Bardet-Biedl syndrome
AM Slavotinek et al.
NATURE GENETICS (2000)
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
N Katsanis et al.
NATURE GENETICS (2000)
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