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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

American journal of human genetics, 2014-12, Vol.95 (6), p.649-659

2014

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The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Science (American Association for the Advancement of Science), 1992-08, Vol.257 (5071), p.797-800

1992

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Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

Neuron (Cambridge, Mass.), 1995-12, Vol.15 (6), p.1455-1463

1995

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Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

BMC medical genetics, 2007-12, Vol.8 (1), p.78-78, Article 78

2007

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A polymorphic microsatellite that mediates induction of PIG3 by p53

Nature genetics, 2002-03, Vol.30 (3), p.315-320

2002

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Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs)

European journal of human genetics : EJHG, 2002-11, Vol.10 (11), p.753-756

2002

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Muscle pathology in 57 patients with myotonic dystrophy type 2

Muscle & nerve, 2004-02, Vol.29 (2), p.275-281

2004

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Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred

European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.265-269

2008

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Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers

Journal of neurology, 2003-08, Vol.250 (8), p.932-937

2003

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Structural and molecular basis of skeletal muscle diseases: George Karpati (volume editor), Maria Molnar, Hans H. Goebel, Kiichi Arahata, Alan E. H. Emery, Eric Hoffman, Eric Shoubridge (advisory editors) ISN Neuropath Press Basel, ISBN 3-952-23130-4, 311 pages, 85.00

Human genetics, 2003-04, Vol.112 (4), p.439-439

Koch, Manuela C.

2003

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Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany

Reproductive biomedicine online, 2005, Vol.10 (1), p.116-123

2005

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Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31

European journal of human genetics : EJHG, 2005-12, Vol.13 (12), p.1268-1274

2005

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Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

American journal of medical genetics. Part A, 2005-05, Vol.134A (4), p.404-408

2005

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A novel type of autosomal recessive syndactyly: Clinical and molecular studies in a family of Pakistani origin

American journal of medical genetics, 2004-04, Vol.126A (1), p.61-67

2004

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The molecular genetic approach to Bartter's syndrome

Journal of molecular medicine (Berlin, Germany), 1998-04, Vol.76 (5), p.317-325

1998

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Paramyotonia congenita without paralysis on exposure to cold: A novel mutation in the SCN4A gene (Val 1293lle)

Neuroreport, 1995-10, Vol.6 (15), p.2001-2004

1995

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Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome

Pediatric nephrology (Berlin, West), 1996-10, Vol.10 (5), p.551-554

1996

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Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2)

Neuromuscular disorders : NMD, 2000-10, Vol.10 (7), p.478-480

2000

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Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments

Clinical genetics, 1999-02, Vol.55 (2), p.88-94

1999

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Human transcription factor SLUG : mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region

Mutation research, 1999-08, Vol.406 (2-4), p.63-69

1999

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Multimeric structure of CIC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)

The EMBO journal, 1994-02, Vol.13 (4), p.737-743

1994

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Fifth finger camptodactyly maps to chromosome 3q 11.2-q 13.12 in a large German kindred

European journal of human genetics : EJHG, 2008, Vol.16 (2), p.265-269

2008

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Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia

American journal of human genetics, 1995-12, Vol.57 (6), p.1325-1334

1995

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Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

Human molecular genetics, 1995-05, Vol.4 (5), p.951-958

1995

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Mutations in the Gene Encoding the Inwardly-Rectifying Renal Potassium Channel, ROMK, Cause the Antenatal Variant of Bartter Syndrome: Evidence for Genetic Heterogeneity

Human molecular genetics, 1997-01, Vol.6 (1), p.17-26

1997

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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

A polymorphic microsatellite that mediates induction of PIG3 by p53

Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs)

Muscle pathology in 57 patients with myotonic dystrophy type 2

Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred

Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers

Structural and molecular basis of skeletal muscle diseases: George Karpati (volume editor), Maria Molnar, Hans H. Goebel, Kiichi Arahata, Alan E. H. Emery, Eric Hoffman, Eric Shoubridge (advisory editors) ISN Neuropath Press Basel, ISBN 3-952-23130-4, 311 pages, 85.00

Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany

Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

A novel type of autosomal recessive syndactyly: Clinical and molecular studies in a family of Pakistani origin

The molecular genetic approach to Bartter's syndrome

Paramyotonia congenita without paralysis on exposure to cold: A novel mutation in the SCN4A gene (Val 1293lle)

Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome

Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2)

Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments

Human transcription factor SLUG : mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region

Multimeric structure of CIC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)

Fifth finger camptodactyly maps to chromosome 3q 11.2-q 13.12 in a large German kindred

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

Mutations in the Gene Encoding the Inwardly-Rectifying Renal Potassium Channel, ROMK, Cause the Antenatal Variant of Bartter Syndrome: Evidence for Genetic Heterogeneity

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