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Synpolydactyly: clinical and molecular advances

Clinical genetics, 2008-02, Vol.73 (2), p.113-120

2008

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Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome

Cytogenetics and cell genetics, 2001, Vol.95 (1-2), p.20

2001

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Point Mutations in Human GLI3 Cause Greig Syndrome

Human molecular genetics, 1997-10, Vol.6 (11), p.1979-1984

1997

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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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Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)

British journal of dermatology (1951), 2006-04, Vol.154 (4), p.766-769

2006

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Mutational spectrum of NSDHL in CHILD syndrome

Journal of medical genetics, 2005-02, Vol.42 (2), p.e17-e17

2005

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Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome

Human molecular genetics, 1999-09, Vol.8 (9), p.1769-1777

1999

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GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

Nature (London), 1991-08, Vol.352 (6335), p.539-540

1991

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The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations

American journal of human genetics, 1999-09, Vol.65 (3), p.645-655

1999

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Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts

Human genetics, 1992-06, Vol.89 (4), p.389-394

1992

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Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations

American journal of medical genetics, 2003-07, Vol.120A (1), p.49-58

2003

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Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12

Clinical genetics, 2006-06, Vol.69 (6), p.518-524

2006

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Mild phenotypic expression of CHILD syndrome in two generations

British journal of dermatology (1951), 2009-09, Vol.161 (3), p.714-715

2009

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CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene

Dermatology (Basel), 2005-01, Vol.211 (2), p.155

2005

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Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products

The EMBO journal, 1989-12, Vol.8 (12), p.3617-3625

1989

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CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder

Journal of the European Academy of Dermatology and Venereology, 2010-06, Vol.24 (6), p.733-736

2010

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Serotonin transporter gene-linked polymorphic region: Allele distributions in relationship to body weight and in anorexia nervosa

Life sciences (1973), 1997-10, Vol.61 (21), p.PL295-PL303

1997

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The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor

Nature (London), 1987-02, Vol.325 (6106), p.733-736

1987

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Mutations in Bone Morphogenetic Protein Receptor 1B Cause Brachydactyly Type A2

Proceedings of the National Academy of Sciences - PNAS, 2003-10, Vol.100 (21), p.12277-12282

2003

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Selective Differential Display of RNAs containing interspersed repeats: analysis of changes in the transcription of HERV-K LTRs in germ cell tumors

Molecular genetics and genomics : MGG, 2002-01, Vol.266 (5), p.796-805

2002

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Molecular Characterization of Human Zyxin

The Journal of biological chemistry, 1996-12, Vol.271 (49), p.31470-31478

1996

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Hepatitis B virus DNA integration in a sequence homologous to v- erb-A and steroid receptor genes in a hepatocellular carcinoma

Nature (London), 1986-07, Vol.322 (6074), p.70-72

1986

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Genomic structure and chromosome mapping of human and mouse RAMP genes

Cytogenetics and cell genetics, 2000, Vol.90 (1-2), p.115

2000

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THIK-1 and THIK-2, a Novel Subfamily of Tandem Pore Domain K+ Channels

The Journal of biological chemistry, 2001-03, Vol.276 (10), p.7302-7311

2001

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Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation

International Journal of Obesity and Related Disorders, 2001-06, Vol.25 (6), p.767-769

2001

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Synpolydactyly: clinical and molecular advances

Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome

Point Mutations in Human GLI3 Cause Greig Syndrome

The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)

Mutational spectrum of NSDHL in CHILD syndrome

Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations

Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts

Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations

Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12

Mild phenotypic expression of CHILD syndrome in two generations

CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene

Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products

CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder

Serotonin transporter gene-linked polymorphic region: Allele distributions in relationship to body weight and in anorexia nervosa

The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor

Mutations in Bone Morphogenetic Protein Receptor 1B Cause Brachydactyly Type A2

Selective Differential Display of RNAs containing interspersed repeats: analysis of changes in the transcription of HERV-K LTRs in germ cell tumors

Molecular Characterization of Human Zyxin

Hepatitis B virus DNA integration in a sequence homologous to v- erb-A and steroid receptor genes in a hepatocellular carcinoma

Genomic structure and chromosome mapping of human and mouse RAMP genes

THIK-1 and THIK-2, a Novel Subfamily of Tandem Pore Domain K+ Channels

Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation

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