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Cysteine-sparing notch3 mutations: cadasil or cadasil variants?

Neurology, 2008-09, Vol.71 (10), p.774-776

2008

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A case of Brooke–Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin’s lymphoma

Journal of cancer research and clinical oncology, 2016-04, Vol.142 (4), p.845-848

2016

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Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome

Heart (British Cardiac Society), 2005-03, Vol.91 (3), p.383-384

2005

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Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Annals of human genetics, 2008-01, Vol.72 (1), p.35-40

2008

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Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene

Clinical neuropathology, 2005-03, Vol.24 (2), p.77

2005

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Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy

Klinische Monatsblätter für Augenheilkunde, 2006-10, Vol.223 (10), p.829

2006

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Cosegregation of balanced translocation (1;2) with retarded speech development and dyslexia

The Lancet (British edition), 1993-07, Vol.342 (8864), p.178-179

1993

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ABSENCE OF Yq MICRODELETIONS IN INFERTILE MEN

Archives of andrology, 2001, Vol.47 (3), p.167-171

2001

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Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population

International journal of cancer, 2002-02, Vol.97 (4), p.472-480

Meindl, A

2002

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Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?

Klinische Monatsblätter für Augenheilkunde, 2005-12, Vol.222 (12), p.1017

2005

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A family with Huntington disease and reciprocal translocation 4; 5

American journal of human genetics, 1986-05, Vol.38 (5), p.759-767

1986

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Clinico-neurological investigations in the fra (X) form of mental retardation

Journal of neurology, 1989-02, Vol.236 (2), p.85-92

1989

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Women’s Experiences of Undergoing BRCA1 and BRCA2 Testing: Organisation of the German Hereditary Breast and Ovarian Cancer Consortium Survey and Preliminary Data from Münster

Community genetics, 2003, Vol.6 (4), p.249-258

2003

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Folic acid treatment in males and females with fragile-(X)-syndrome

American journal of medical genetics, 1986-01, Vol.23 (1-2), p.273-289

1986

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Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families

Annales de génétique, 2003, Vol.46 (1), p.19-23

2003

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Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?

American journal of medical genetics, 1996-08, Vol.64 (2), p.334-339

1996

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Screening for fra(X)(q) in a population of mentally retarded males

Human genetics, 1983-01, Vol.63 (2), p.153-157

1983

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Relationship between age and IQ among fragile X males: A multicenter study

American journal of medical genetics, 1991-02, Vol.38 (2-3), p.481-487

1991

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Transmission of the marker X syndrome trait by unaffected males: conclusions from studies of large families

Human genetics, 1984-01, Vol.67 (4), p.419-427

1984

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Heterozygous female carriers of the marker-X-chromosome: IQ estimation and replication status of fra(X)(q)

Human genetics, 1984-01, Vol.66 (4), p.344-346

1984

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Gynecologic and cytogenetic aspects of prenatal diagnosis in the 1st trimester of pregnancy

Geburtshilfe und Frauenheilkunde, 1985-02, Vol.45 (2), p.73-78

1985

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Cysteine-sparing notch3 mutations: cadasil or cadasil variants?

A case of Brooke–Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin’s lymphoma

Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome

Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene

Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy

Cosegregation of balanced translocation (1;2) with retarded speech development and dyslexia

ABSENCE OF Yq MICRODELETIONS IN INFERTILE MEN

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population

Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?

A family with Huntington disease and reciprocal translocation 4; 5

Clinico-neurological investigations in the fra (X) form of mental retardation

Women’s Experiences of Undergoing BRCA1 and BRCA2 Testing: Organisation of the German Hereditary Breast and Ovarian Cancer Consortium Survey and Preliminary Data from Münster

Folic acid treatment in males and females with fragile-(X)-syndrome

Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families

Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?

Screening for fra(X)(q) in a population of mentally retarded males

Relationship between age and IQ among fragile X males: A multicenter study

Transmission of the marker X syndrome trait by unaffected males: conclusions from studies of large families

Heterozygous female carriers of the marker-X-chromosome: IQ estimation and replication status of fra(X)(q)

Gynecologic and cytogenetic aspects of prenatal diagnosis in the 1st trimester of pregnancy

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