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A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

Nature genetics, 1993-08, Vol.4 (4), p.346-350

1993

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A gene for Leber's congenital amaurosis maps to chromosome 17p

Human molecular genetics, 1995-08, Vol.4 (8), p.1447-1452

1995

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B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

Journal of medical genetics, 2001-07, Vol.38 (7), p.488-492

2001

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Nance-Horan syndrome : linkage analysis in 4 families refines localization in XP22.31-p22.13 region

Human genetics, 1997-02, Vol.99 (2), p.256-261

1997

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The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52

Genomics (San Diego, Calif.), 1992-10, Vol.14 (2), p.508-510

1992

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Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2

American journal of human genetics, 1992-05, Vol.50 (5), p.981-987

1992

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Phenotype-genotype correlations in X linked retinitis pigmentosa

Journal of medical genetics, 1992-09, Vol.29 (9), p.615-623

1992

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Congenital glaucoma: genetic models

Human genetics, 1979-02, Vol.46 (3), p.305-317

1979

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Inheritance in the etiology of convergent squint

Ophthalmologica (Basel), 1979-01, Vol.179 (4), p.225-234

1979

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Segregation analysis in hereditary retinoblastoma

Human genetics, 1981-01, Vol.57 (4), p.411-419

1981

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Ophthalmo-acromelic syndrome

Annales de génétique, 1988, Vol.31 (4), p.226

1988

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Prenatal diagnosis of various hereditary blinding diseases

Ophtalmologie (Paris), 1990-05, Vol.4 (3), p.237

1990

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Recessive form of polysyndactyly

Journal de genetique humaine, 1982-12, Vol.30 Suppl 5, p.439

1982

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Risk of recurrence of several congenital malformations: anencephaly, spina bifida, cleft palate and cleft lip

Archives françaises de pediatrie, 1976-12, Vol.33 (10), p.973

1976

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Familial and epidemiological study of longitudinal agenesis of the lower extremities

Chirurgie pediatrique, 1978, Vol.19 (5-6), p.301

1978

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Bilateral pseudo-glioma with generalized osteoporosis: an autosomal recessive disease

Journal de genetique humaine, 1976-11, Vol.24 Suppl, p.65

1976

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Genetic counseling and prenatal diagnosis in Duchenne myopathy: yesterday, today and tomorrow

Journal de genetique humaine, 1987-01, Vol.35 (1), p.3

1987

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Association of VACTERL and hydrocephalus: a new familial entity

Annales de génétique, 1984, Vol.27 (4), p.220

1984

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Placental sulfatase deficiency and sex-linked recessive ichthyosis. Two cases found in two sisters (author's transl)

Journal de gynécologie, obstétrique et biologie de la reproduction, 1979, Vol.8 (6), p.533

1979

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Golabi Rosen syndrome: a rare syndrome with imprecise nosologic limits, failure of prenatal diagnosis

Journal de genetique humaine, 1989-06, Vol.37 (2), p.163

1989

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Hereditary dentinogenesis imperfecta, clinical, genetic and microradiographic study

Revue francaise d'odonto-stomatologie, 1970-12, Vol.17 (10), p.1349

1970

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Distribution of atypical E-1a gene variant of serum cholinesterase in a French population sample

Bulletin de l'Institut national de la sante et de la recherche medicale, 1967-11, Vol.22 (6), p.1119

1967

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Critical study of hypophosphatemia for genetic study of familial hypophosphatemic vitamin-resistant rickets

Archives françaises de pediatrie, 1972-12, Vol.29 (10), p.1059

1972

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A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

A gene for Leber's congenital amaurosis maps to chromosome 17p

B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

Nance-Horan syndrome : linkage analysis in 4 families refines localization in XP22.31-p22.13 region

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2

Phenotype-genotype correlations in X linked retinitis pigmentosa

Congenital glaucoma: genetic models

Inheritance in the etiology of convergent squint

Segregation analysis in hereditary retinoblastoma

Ophthalmo-acromelic syndrome

Prenatal diagnosis of various hereditary blinding diseases

Recessive form of polysyndactyly

Risk of recurrence of several congenital malformations: anencephaly, spina bifida, cleft palate and cleft lip

Familial and epidemiological study of longitudinal agenesis of the lower extremities

Bilateral pseudo-glioma with generalized osteoporosis: an autosomal recessive disease

Genetic counseling and prenatal diagnosis in Duchenne myopathy: yesterday, today and tomorrow

Association of VACTERL and hydrocephalus: a new familial entity

Placental sulfatase deficiency and sex-linked recessive ichthyosis. Two cases found in two sisters (author's transl)

Golabi Rosen syndrome: a rare syndrome with imprecise nosologic limits, failure of prenatal diagnosis

Hereditary dentinogenesis imperfecta, clinical, genetic and microradiographic study

Distribution of atypical E-1a gene variant of serum cholinesterase in a French population sample

Critical study of hypophosphatemia for genetic study of familial hypophosphatemic vitamin-resistant rickets

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