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GTF2IRD1 in Craniofacial Development of Humans and Mice

Science (American Association for the Advancement of Science), 2005-11, Vol.310 (5751), p.1184-1187

2005

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Read's Recall: Shuffling abstracts - and foundations

European journal of human genetics : EJHG, 2017-12, Vol.25 (s2), p.S27-S28

Read, Andrew P

2017

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Nature genetics, 1999-12, Vol.23 (4), p.421-424

1999

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia ( MITF ) gene

Nature genetics, 1994-11, Vol.8 (3), p.251-255

1994

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Elastin: mutational spectrum in supravalvular aortic stenosis

European journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.955-963

2000

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SLUG (SNAI2) deletions in patients with Waardenburg disease

Human molecular genetics, 2002-12, Vol.11 (25), p.3231-3236

2002

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Nature genetics, 1998-02, Vol.18 (2), p.171-173

1998

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What can be offered to couples at (possibly) increased genetic risk?

Journal of community genetics, 2012-07, Vol.3 (3), p.167-174

2012

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Germline mutation of ARF in a melanoma kindred

Human molecular genetics, 2002-05, Vol.11 (11), p.1273-1279

2002

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John C. Avise: The hope, hype and reality of genetic engineering (2004): Oxford University Press, ISBN 0195169506, hardcover, 27,69 Euro

Human genetics, 2006-04, Vol.119 (3), p.355-355

Read, Andrew P.

2006

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

Nature (London), 1992-02, Vol.355 (6361), p.635-636

1992

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Determination of Sequence Variation and Haplotype Structure for the Gonadotropin-Releasing Hormone (GnRH) and GnRH Receptor Genes: Investigation of Role in Pubertal Timing

The journal of clinical endocrinology and metabolism, 2005-02, Vol.90 (2), p.1091-1099

2005

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Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms

European journal of endocrinology, 2006-07, Vol.155 (1), p.121-126

2006

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A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

Human molecular genetics, 1999-09, Vol.8 (9), p.1785-1789

1999

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How clinicians add to knowledge of development

The Lancet (British edition), 2003-08, Vol.362 (9382), p.477-484

2003

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Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

Nature genetics, 1993-01, Vol.3 (1), p.26-30

1993

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LIM-kinase deleted in Williams syndrome

Nature genetics, 1996-07, Vol.13 (3), p.272-273

1996

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Inherited eye disease: cause and late effect

Trends in molecular medicine, 2005-10, Vol.11 (10), p.449-455

2005

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Pax genes - Paired feet in three camps

Nature genetics, 1995-04, Vol.9 (4), p.333-334

Read, Andrew P

1995

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Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma of the oral cavity

Cancer research (Chicago, Ill.), 1994-12, Vol.54 (24), p.6484-6488

1994

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A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

European journal of human genetics : EJHG, 1999-10, Vol.7 (7), p.737-747

1999

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DLC1 is unlikely to be a primary target for deletions on chromosome arm 8p22 in head and neck squamous cell carcinoma

Cancer letters, 2004-06, Vol.209 (2), p.207-213

2004

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Hereditary deafness: lessons for developmental studies and genetic diagnosis

European journal of pediatrics, 2000-12, Vol.159 Suppl 3 (S3), p.S232-S235

Read, A P

2000

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Waardenburg syndrome

Journal of medical genetics, 1997-08, Vol.34 (8), p.656-665

1997

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GTF2IRD1 in Craniofacial Development of Humans and Mice

Read's Recall: Shuffling abstracts - and foundations

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia ( MITF ) gene

Elastin: mutational spectrum in supravalvular aortic stenosis

SLUG (SNAI2) deletions in patients with Waardenburg disease

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

What can be offered to couples at (possibly) increased genetic risk?

Germline mutation of ARF in a melanoma kindred

John C. Avise: The hope, hype and reality of genetic engineering (2004): Oxford University Press, ISBN 0195169506, hardcover, 27,69 Euro

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

Determination of Sequence Variation and Haplotype Structure for the Gonadotropin-Releasing Hormone (GnRH) and GnRH Receptor Genes: Investigation of Role in Pubertal Timing

Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms

A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

How clinicians add to knowledge of development

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

LIM-kinase deleted in Williams syndrome

Inherited eye disease: cause and late effect

Pax genes - Paired feet in three camps

Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma of the oral cavity

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

DLC1 is unlikely to be a primary target for deletions on chromosome arm 8p22 in head and neck squamous cell carcinoma

Hereditary deafness: lessons for developmental studies and genetic diagnosis

Waardenburg syndrome

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