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Hypocretin deficiency in Prader-Willi syndrome

European journal of neurology, 2005-01, Vol.12 (1), p.70-72

2005

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Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

Clinical genetics, 2008-01, Vol.73 (1), p.62-70

2008

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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

Neurology, 2008-11, Vol.71 (20), p.1602-1608

2008

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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

Journal of medical genetics, 2008-04, Vol.45 (4), p.200-209

2008

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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

American journal of human genetics, 2007-02, Vol.80 (2), p.232-240

2007

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Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

Molecular syndromology, 2011-12, Vol.2 (1), p.27-34

2011

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Cancer Risk of Heterozygotes With the NBN Founder Mutation

JNCI : Journal of the National Cancer Institute, 2007-12, Vol.99 (24), p.1875-1880

2007

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The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case

Cytogenetic and genome research, 1999-01, Vol.85 (3-4), p.310-314

1999

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Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Cell, 1998-05, Vol.93 (3), p.467-476

1998

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Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Nature genetics, 2000-07, Vol.25 (3), p.298-301

2000

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Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein

Carcinogenesis (New York), 2007-01, Vol.28 (1), p.107-111

2007

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DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS

Human genetics, 2005-09, Vol.117 (5), p.485-493

2005

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Two Li-Fraumeni syndrome families with novel germline p53 mutations : loss of the wild-type p53 allele in only 50% of tumours

British journal of cancer, 1998-04, Vol.77 (7), p.1034-1039

1998

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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

Human molecular genetics, 1994-07, Vol.3 (7), p.1069-1074

1994

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Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13

Nature genetics, 2001-08, Vol.28 (4), p.365-370

2001

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Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

Human genetics, 1992-01, Vol.88 (3), p.288-294

1992

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Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

Journal of medical genetics, 2006-03, Vol.43 (3), p.218-224

2006

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Nijmegen breakage syndrome

Archives of disease in childhood, 2000-05, Vol.82 (5), p.400-406

The, I

2000

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Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg, Deutschland

Medizinische Genetik, 2014, Vol.26 (2), p.246-254

2014

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Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome

Gene, 2009-11, Vol.447 (1), p.12-17

2009

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Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness

Clinical genetics, 2004-08, Vol.66 (2), p.152-157

2004

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Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Journal of medical genetics, 2002-10, Vol.39 (10), p.722-733

2002

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Allelic heterogeneity of alkaptonuria in Central Europe

European journal of human genetics : EJHG, 1999-09, Vol.7 (6), p.645-651

1999

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Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies

Diabetes (New York, N.Y.), 2003-06, Vol.52 (6), p.1573-1578

2003

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Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Journal of medical genetics, 2002-07, Vol.39 (7), p.496-501

2002

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Hypocretin deficiency in Prader-Willi syndrome

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

Cancer Risk of Heterozygotes With the NBN Founder Mutation

The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS

Two Li-Fraumeni syndrome families with novel germline p53 mutations : loss of the wild-type p53 allele in only 50% of tumours

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13

Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

Nijmegen breakage syndrome

Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg, Deutschland

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Allelic heterogeneity of alkaptonuria in Central Europe

Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

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