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The Role of the SMN Gene in Proximal Spinal Muscular Atrophy

Human molecular genetics, 1998-01, Vol.7 (10), p.1531-1536

1998

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Identification and characterization of a spinal muscular atrophy-determining gene

Cell, 1995-01, Vol.80 (1), p.155-165

1995

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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Nature genetics, 1996-12, Vol.14 (4), p.461-464

1996

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The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish inquisition

Human genetics, 2000-09, Vol.107 (3), p.276-284

2000

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Reply to "The question of heterogeneity in Marfan syndrome"

Nature genetics, 1995-03, Vol.9 (3), p.230-231

1995

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Localization of the choline acetyltransferase (CHAT) gene to human chromosome 10

Genomics (San Diego, Calif.), 1990-02, Vol.6 (2), p.374-378

1990

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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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The 1980 years

M.S. Médecine sciences, 2015-03, Vol.31 Spec No 1, p.9

2015

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Human Genes Involved in Chromatin Remodeling in Transcription Initiation, and Associated Diseases: An Overview Using the GENATLAS Database

Molecular Genetics and Metabolism, 1999-08, Vol.67 (4), p.261-277

1999

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GENATLAS online

Trends in genetics, 1998-02, Vol.14 (2), p.83-83

Frézal, Jean

1998

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L’AGE MATERNEL ET LE RANG DE NAISSANCE DANS UN ECHANTILLON DE JUMEAUX

Human heredity, 2008-07, Vol.5 (4), p.403-419

2008

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A gene for Stargardt's disease ( fundus flavimaculatus ) maps to the short arm of chromosome 1

Nature genetics, 1993-11, Vol.5 (3), p.308-311

1993

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Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease

Human genetics, 1995-04, Vol.95 (4), p.382-384

1995

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Reply to "The question of heterogeneity in Marfan syndrome"

Nature genetics, 1995-03, Vol.9 (3), p.230-231

1995

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Exclusion of the cone-specific ?-subunit of the transducin gene in Stargardt's disease

Human genetics, 1995-04, Vol.95 (4)

1995

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Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4)

Human genetics, 1989-02, Vol.81 (3), p.278-282

1989

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DELETION OF BLOOD MITOCHONDRIAL DNA IN PANCYTOPENIA

The Lancet (British edition), 1988-09, Vol.332 (8610), p.567-568

1988

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LE NOMBRE DE DERMATOGLYPHES DANS UN ECHANTILLON DE JUMEAUX

Annals of human genetics, 1957-05, Vol.21 (4), p.374-396

1957

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Clinical and genetic heterogeneity in retinitis pigmentosa

Human genetics, 1990-10, Vol.85 (6), p.635-642

1990

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Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses

Journal of medical genetics, 1994-03, Vol.31 (3), p.222-223

1994

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The gene map and genome organization

Journal of human genetics, 1991-03, Vol.36 (1), p.1-5

1991

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A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7

Nature (London), 1985-11, Vol.318 (6044), p.380-382

1985

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Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblasts

Human genetics, 1981-01, Vol.59 (3), p.256-258

1981

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Diet-responsive proconvertin (factor VII) deficiency in homocystinuria

The Journal of pediatrics, 1983-05, Vol.102 (5), p.730-734

1983

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Genatlas database, genes and development defects

Comptes rendus de l'Académie des sciences, Série III, Sciences de la vie, 1998-10, Vol.321 (10), p.805-817

FREZAL, J

1998

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The Role of the SMN Gene in Proximal Spinal Muscular Atrophy

Identification and characterization of a spinal muscular atrophy-determining gene

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish inquisition

Reply to "The question of heterogeneity in Marfan syndrome"

Localization of the choline acetyltransferase (CHAT) gene to human chromosome 10

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

The 1980 years

Human Genes Involved in Chromatin Remodeling in Transcription Initiation, and Associated Diseases: An Overview Using the GENATLAS Database

GENATLAS online

L’AGE MATERNEL ET LE RANG DE NAISSANCE DANS UN ECHANTILLON DE JUMEAUX

A gene for Stargardt's disease ( fundus flavimaculatus ) maps to the short arm of chromosome 1

Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease

Reply to "The question of heterogeneity in Marfan syndrome"

Exclusion of the cone-specific ?-subunit of the transducin gene in Stargardt's disease

Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4)

DELETION OF BLOOD MITOCHONDRIAL DNA IN PANCYTOPENIA

LE NOMBRE DE DERMATOGLYPHES DANS UN ECHANTILLON DE JUMEAUX

Clinical and genetic heterogeneity in retinitis pigmentosa

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses

The gene map and genome organization

A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7

Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblasts

Diet-responsive proconvertin (factor VII) deficiency in homocystinuria

Genatlas database, genes and development defects

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