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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

The New England journal of medicine, 1991-12, Vol.325 (24), p.1673-1681

1991

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Cloning and characterization of the human choroideremia gene

Human molecular genetics, 1994-07, Vol.3 (7), p.1041-1046

1994

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A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

Human genetics, 1995-08, Vol.96 (2), p.213-215

1995

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Gène NSD1 et macrosomies congénitales

M.S. Médecine sciences, 2004, Vol.20 (2), p.151-153

2004

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The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

American journal of human genetics, 1996-04, Vol.58 (4), p.785-796

1996

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Cloning and Characterization of DXS6673E, a Candidate Gene for X-linked Mental Retardation in Xq13.1

Human molecular genetics, 1996-07, Vol.5 (7), p.887-897

1996

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X chromosome inactivation in 30 girls with Rett syndrome : analysis using the probe

Human genetics, 1996-02, Vol.97 (2), p.247-250

1996

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Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata

Human molecular genetics, 1995-09, Vol.4 (9), p.1565-1568

1995

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Physical Mapping of DNA Markers in the q13-q22 Region of the Human X Chromosome

Genomics (San Diego, Calif.), 1993-07, Vol.17 (1), p.147-152

1993

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Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation : mapping of the Xp22 chromosome breakpoint

Human genetics, 1994-05, Vol.93 (5), p.587-591

1994

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A High-Resolution Interval Map of the q21 Region of the Human X Chromosome

Genomics (San Diego, Calif.), 1995-06, Vol.27 (3), p.539-543

1995

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DNA polymorphism analysis in families with recurrence of free trisomy 21

American journal of human genetics, 1992-11, Vol.51 (5), p.1015-1027

1992

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Incontinentia pigmenti and X-autosome translocations: non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases

Human genetics, 1989-02, Vol.81 (3), p.269-272

1989

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Lafora disease is not linked to the Unverricht-Lundborg locus

American journal of medical genetics, 1995-02, Vol.60 (1), p.80-84

1995

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c-Ha-ras1 is not deleted in aniridia-Wilms' tumour association

Nature (London), 1983-10, Vol.305 (5935), p.638-641

1983

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Distal trisomy 14q. II, Molecular study of the 14q32 locus in two cases of chromosome 14 rearrangements with partial duplication

Human genetics, 1990-10, Vol.85 (6), p.617-622

1990

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Chromosome Aberrations in Peripheral Blood Lymphocytes of Welders and Characterization of Their Exposure by Biological Samples Analysis

Journal of occupational medicine, 1989-05, Vol.31 (5), p.477-483

1989

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Distal trisomy 14q. I, Clinical and cytogenetical studies

Human genetics, 1990-10, Vol.85 (6), p.612-616

1990

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Molecular characterization of a ring chromosome 14 showing that the PI locus is centromeric to the D14S1 and IGH loci

Human genetics, 1989-06, Vol.82 (3), p.219-222

1989

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A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes

Human genetics, 1986-02, Vol.72 (2), p.157-159

1986

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TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment

American journal of medical genetics, 2002-11, Vol.112 (4), p.400-404

2002

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Autosomal recessive lateralization and midline defects: Blastogenesis recessive 1

American journal of medical genetics, 1997-02, Vol.68 (4), p.401-404

1997

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No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families

American journal of medical genetics, 1993-07, Vol.46 (6), p.700-705

1993

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Man
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Polymorphism, Genetic
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

Cloning and characterization of the human choroideremia gene

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

Gène NSD1 et macrosomies congénitales

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

Cloning and Characterization of DXS6673E, a Candidate Gene for X-linked Mental Retardation in Xq13.1

X chromosome inactivation in 30 girls with Rett syndrome : analysis using the probe

Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata

Physical Mapping of DNA Markers in the q13-q22 Region of the Human X Chromosome

Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation : mapping of the Xp22 chromosome breakpoint

A High-Resolution Interval Map of the q21 Region of the Human X Chromosome

DNA polymorphism analysis in families with recurrence of free trisomy 21

Incontinentia pigmenti and X-autosome translocations: non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases

Lafora disease is not linked to the Unverricht-Lundborg locus

c-Ha-ras1 is not deleted in aniridia-Wilms' tumour association

Distal trisomy 14q. II, Molecular study of the 14q32 locus in two cases of chromosome 14 rearrangements with partial duplication

Chromosome Aberrations in Peripheral Blood Lymphocytes of Welders and Characterization of Their Exposure by Biological Samples Analysis

Distal trisomy 14q. I, Clinical and cytogenetical studies

Molecular characterization of a ring chromosome 14 showing that the PI locus is centromeric to the D14S1 and IGH loci

A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes

TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment

Autosomal recessive lateralization and midline defects: Blastogenesis recessive 1

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families

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