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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Genetics in medicine, 2007-10, Vol.9 (10), p.690-694

2007

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Tetra‐amelia and lung hypo/aplasia syndrome: New case report and review

American journal of medical genetics. Part A, 2008-11, Vol.146A (21), p.2799-2803

2008

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Clinical and Genetic Characteristics of Patients with Neurofibromatosis Type 1 and Pheochromocytoma

The New England journal of medicine, 2006-06, Vol.354 (25), p.2729-2731

2006

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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutières syndrome

Arthritis and rheumatism, 2010-05, Vol.62 (5), p.1469-1477

2010

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Germline NF1 Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

The journal of clinical endocrinology and metabolism, 2007-07, Vol.92 (7), p.2784-2792

2007

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Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

Human mutation, 2006-02, Vol.27 (2), p.211-212

2006

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Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

Human mutation, 2007-08, Vol.28 (8), p.830-830

2007

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Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene

Journal of Pediatric Endocrinology and Metabolism, 2012-02, Vol.25 (1-2), p.147-148

2012

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Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients

Journal of neurology, 2009-12, Vol.256 (12), p.2043-2051

2009

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A SALL4 zinc finger missense mutation predicted to result in increased dna binding affinity is associated with cranial midline defects and mild features of okihiro syndrome

Human genetics, 2006-03, Vol.119 (1-2), p.154-161

2006

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Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins

American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2304-2307

2008

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Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Human mutation, 2006-09, Vol.27 (9), p.975-976

2006

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Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes

American journal of medical genetics. Part A, 2006-09, Vol.140A (17), p.1880-1886

2006

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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Tetra‐amelia and lung hypo/aplasia syndrome: New case report and review

Clinical and Genetic Characteristics of Patients with Neurofibromatosis Type 1 and Pheochromocytoma

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutières syndrome

Germline NF1 Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene

Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients

A SALL4 zinc finger missense mutation predicted to result in increased dna binding affinity is associated with cranial midline defects and mild features of okihiro syndrome

Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes

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