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Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization

Human genetics, 1999-11, Vol.105 (5), p.444-451

1999

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Genetic abnormalities detected by comparative genomic hybridization in a human endometriosis-derived cell line

Molecular human reproduction, 2000-09, Vol.6 (9), p.821-827

2000

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A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome

American journal of human genetics, 1996-06, Vol.58 (6), p.1185-1191

1996

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45,X/46,XY mosaicism: report of 27 cases

Pediatrics (Evanston), 1999-08, Vol.104 (2 Pt 1), p.304

1999

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Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb

European journal of human genetics : EJHG, 2000-05, Vol.8 (5), p.319-324

2000

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Early Pattern of Epilepsy in the Ring Chromosome 20 Syndrome

Epilepsia (Copenhagen), 2006-03, Vol.47 (3), p.543-549

2006

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Amélioration clinique et immunologique des scléroses en plaques à forme rémittente par l'Isoprinosine: étude pilote randomisée

La Presse médicale (1983), 1986-05, Vol.15 (20), p.930-931

1986

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Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene

Human genetics, 1998-02, Vol.102 (2), p.151-156

1998

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Abnormal sex differentiation and multiple congenital abnormalities in a subject harbouring an apparently balanced (6;8) translocation

Journal of medical genetics, 2000-12, Vol.37 (12), p.972-974

2000

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Molecular cytogenetic aberrations in autosomal dominant polycystic kidney disease tissue

Journal of the American Society of Nephrology, 2003-02, Vol.14 (2), p.359-366

2003

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Fra(16)(q21) in a family with four spontaneous abortions

Clinical genetics, 1993-11, Vol.44 (5), p.272-272

1993

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A Peptidase Gene in Chromosome 8q Is Disrupted by A Balanced Translocation in a Duane Syndrome Patient

Investigative ophthalmology & visual science, 2002-12, Vol.43 (12), p.3609-3612

2002

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An antisense interferon-β RNA abolishes repression of c-fos gene expression

Oncogene, 1992-06, Vol.7 (6), p.1109-1118

1992

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DOR-1, A novel CD10+ stromal cell line derived from progressive Langerhans cell histiocytosis of bone

Pediatric Blood & Cancer, 2005-02, Vol.44 (2), p.128-137

2005

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Lesch‐Nyhan syndrome in a girl

Journal of inherited metabolic disease, 1992-09, Vol.15 (5), p.790-791

1992

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De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome

Journal of medical genetics, 1992-10, Vol.29 (10), p.747-749

1992

Volltextzugriff (PDF)

Hétérogénéité génétique des retards mentaux non spécifiques liés au chromosome X: étude clinique et génétique de deux familles

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 1996-09, Vol.3 (9), p.923-923

1996

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Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization

Human genetics, 1999-11, Vol.105 (5), p.444-451

1999

Volltextzugriff (PDF)

Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21)

American journal of medical genetics, 1992-03, Vol.42 (5), p.716-719

1992

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Clinical and immunological improvement of remittent multiple sclerosis by isoprinosine. Randomized pilot study

La Presse médicale (1983), 1986-05, Vol.15 (20), p.930-931

1986

Volltextzugriff (PDF)

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities

Journal of medical genetics, 1996-09, Vol.33 (9), p.767-771

1996

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Narrowing the Duane syndrome critical region at chromosome8q13 down to 40kb

European journal of human genetics : EJHG, 2000-05, Vol.8 (5), p.319-324

2000

Volltextzugriff (PDF)

Study of immunoglobulins in pleura and pleural effusions

Thorax, 1979-06, Vol.34 (3), p.389-392

1979

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Is Rett syndrome a chromosome breakage syndrome?

American journal of medical genetics, 1994-07, Vol.51 (4), p.602-605

1994

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Gonadal dysgenesis in del(18p) syndrome

American journal of medical genetics, 1995-07, Vol.57 (4), p.598-600

1995

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Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization

Genetic abnormalities detected by comparative genomic hybridization in a human endometriosis-derived cell line

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome

45,X/46,XY mosaicism: report of 27 cases

Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb

Early Pattern of Epilepsy in the Ring Chromosome 20 Syndrome

Amélioration clinique et immunologique des scléroses en plaques à forme rémittente par l'Isoprinosine: étude pilote randomisée

Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene

Abnormal sex differentiation and multiple congenital abnormalities in a subject harbouring an apparently balanced (6;8) translocation

Molecular cytogenetic aberrations in autosomal dominant polycystic kidney disease tissue

Fra(16)(q21) in a family with four spontaneous abortions

A Peptidase Gene in Chromosome 8q Is Disrupted by A Balanced Translocation in a Duane Syndrome Patient

An antisense interferon-β RNA abolishes repression of c-fos gene expression

DOR-1, A novel CD10+ stromal cell line derived from progressive Langerhans cell histiocytosis of bone

Lesch‐Nyhan syndrome in a girl

De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome

Hétérogénéité génétique des retards mentaux non spécifiques liés au chromosome X: étude clinique et génétique de deux familles

Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization

Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21)

Clinical and immunological improvement of remittent multiple sclerosis by isoprinosine. Randomized pilot study

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities

Narrowing the Duane syndrome critical region at chromosome8q13 down to 40kb

Study of immunoglobulins in pleura and pleural effusions

Is Rett syndrome a chromosome breakage syndrome?

Gonadal dysgenesis in del(18p) syndrome

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