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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

Human genetics, 2008-03, Vol.123 (2), p.177-187

2008

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Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

American journal of human genetics, 2009-04, Vol.84 (4), p.483-492

2009

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Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis

Spine (Philadelphia, Pa. 1976), 2017-06, Vol.42 (12), p.E702-E707

2017

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Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

The Journal of clinical investigation, 2005-09, Vol.115 (9), p.2373-2381

2005

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A novel subtype of distal symphalangism affecting only the 4th finger

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1571-1573

2009

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Brachydactyly type A2 associated with a defect in proGDF5 processing

Human molecular genetics, 2008-05, Vol.17 (9), p.1222-1233

2008

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Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

European journal of human genetics : EJHG, 2010-06, Vol.18 (6), p.733-736

2010

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Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.495-497

2010

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Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

Human mutation, 2006-03, Vol.27 (3), p.290-290

2006

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Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia

American journal of medical genetics, 2003-08, Vol.120A (4), p.503-508

2003

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Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

American journal of medical genetics, 2004-06, Vol.127A (2), p.152-157

2004

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Compound heterozygous ASPM mutations in Pakistani MCPH families

American journal of medical genetics. Part A, 2009-05, Vol.149A (5), p.926-930

2009

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A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

American journal of medical genetics. Part A, 2008-04, Vol.146A (8), p.1017-1025

2008

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A novel subtype of distal symphalangism affecting only the 4th finger

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1571-1573

2009

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Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

European journal of human genetics : EJHG, 2006-08, Vol.14 (8), p.904-910

2006

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Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family

American journal of medical genetics. Part A, 2007-11, Vol.143A (22), p.2716-2721

2007

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Limb anomalies: Developmental and evolutionary aspects

American journal of medical genetics, 2002-12, Vol.115 (4), p.231-244

2002

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A 72-year-old Danish puzzle resolved-comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.328-339

2005

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Immunohistochemical expression of p63 in human prenatal tooth primordia

Acta odontologica Scandinavica, 2005-10, Vol.63 (5), p.253-257

2005

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A cryptic unbalanced translocation resulting in del 13q and dup 15q

American journal of medical genetics. Part A, 2008-10, Vol.146A (19), p.2570-2573

2008

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Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG

American journal of medical genetics. Part A, 2005-08, Vol.137A (2), p.148-152

2005

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Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: Description of a second patient and exclusion of HOXD13

American journal of medical genetics. Part A, 2005-06, Vol.135A (2), p.211-213

2005

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A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

Journal of medical genetics, 2006-03, Vol.43 (3), p.225-231

2006

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A Novel Nonsense Mutation in MY06 Is Associated With Progressive Nonsyndromic Hearing Loss in a Danish DFNA22 Family

American journal of medical genetics. Part A, 2008, Vol.146 (8), p.1017-1025

2008

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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

A novel subtype of distal symphalangism affecting only the 4th finger

Brachydactyly type A2 associated with a defect in proGDF5 processing

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

Compound heterozygous ASPM mutations in Pakistani MCPH families

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

A novel subtype of distal symphalangism affecting only the 4th finger

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family

Limb anomalies: Developmental and evolutionary aspects

A 72-year-old Danish puzzle resolved-comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

Immunohistochemical expression of p63 in human prenatal tooth primordia

A cryptic unbalanced translocation resulting in del 13q and dup 15q

Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: Description of a second patient and exclusion of HOXD13

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

A Novel Nonsense Mutation in MY06 Is Associated With Progressive Nonsyndromic Hearing Loss in a Danish DFNA22 Family

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