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22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes

American journal of medical genetics. Part A, 2005-08, Vol.137A (1), p.47-51

2005

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Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)

American journal of medical genetics. Part A, 2004-07, Vol.128A (3), p.325-330

2004

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Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

American journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.373-376

2005

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Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation

Clinical genetics, 2000-08, Vol.58 (2), p.116-122

2000

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Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature

Fertility and sterility, 2006-10, Vol.86 (4), p.1001.e1-1001.e5

2006

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Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q

Journal of medical genetics, 1999-03, Vol.36 (3), p.246-250

1999

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Further cytogenetic characterization of multiple myeloma confirms that 14q32 translocations are a very rare event in hyperdiploid cases

Genes chromosomes & cancer, 2003-11, Vol.38 (3), p.234-239

2003

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Usefulness of Fluorescence in situ Hybridization for the Diagnosis of Turner Mosaic Fetuses with Small Ring X Chromosomes

Fetal diagnosis and therapy, 2000-07, Vol.15 (4), p.229-233

2000

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Pierre Robin sequence and interstitial deletion 2q32.3-q33.2

American journal of medical genetics, 2001-08, Vol.102 (3), p.219-226

2001

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Two New Cases of Papillary Renal Cell Carcinoma with t(X;1)(p11;q21) in Females

Cancer genetics and cytogenetics, 1999-04, Vol.110 (1), p.54-56

1999

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Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly

Journal of medical genetics, 1997-11, Vol.34 (11), p.899-903

1997

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Deregulation of hexose transporter expression in Caco-2 cells by ras and polyoma middle T oncogenes

American journal of physiology: Gastrointestinal and liver physiology, 1996-02, Vol.270 (2 Pt 1), p.G314-G323

1996

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A variant translocation (9;22; [formula omitted]) with local extramedullary monoblastic transformation in CML

Cancer genetics and cytogenetics, 2000-11, Vol.123 (1), p.69-70

2000

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Karyotypes of 1142 couples with recurrent abortion

Obstetrics and gynecology (New York. 1953), 1988-07, Vol.72 (1), p.31

1988

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Les techniques de cytogénétique moléculaire : principes et progrès

M.S. Médecine sciences, 2000, Vol.16 (12), p.1405

2000

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An aggressive Ewing sarcoma associated with a new variant translocation, t(4;11;22)(q25;q24;q12), hyperdiploid karyotype, and tetrasomy 8

Cancer genetics and cytogenetics, 2005-12, Vol.163 (2), p.186-188

2005

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Diaphanospondylodysostosis (DSD) : Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

American journal of medical genetics, 2005, Vol.136A (4), p.373-376

2005

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22q11.2 duplication syndrome : Two new familial cases with some overlapping features with digeorge/velocardiofacial syndromes

American journal of medical genetics, 2005, Vol.137A (1), p.47-51

2005

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Semen Analysis in Subfertile Balanced-Translocation Carriers

Fertility and sterility, 1980-11, Vol.34 (5), p.496-502

1980

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Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)

American journal of medical genetics, 2004, Vol.128A (3), p.325-330

2004

Volltextzugriff (PDF)

Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

American Journal of Medical Genetics Part A, 2005, Vol.136A (4), p.373-376

2005

Volltextzugriff (PDF)

An aggressive Ewing sarcoma associated with a new variant translocation, t(4;11;22)(q25;q24;q12), hyperdiploid karyotype, and tetrasomy 8

Cancer genetics and cytogenetics, 2005, Vol.163 (2), p.186-188

2005

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Cholestérol et développement

Comptes rendus des séances de la Société de biologie et de ses filiales, 1997, Vol.191 (1), p.113-123

1997

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22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)

Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation

Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literature

Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q

Further cytogenetic characterization of multiple myeloma confirms that 14q32 translocations are a very rare event in hyperdiploid cases

Usefulness of Fluorescence in situ Hybridization for the Diagnosis of Turner Mosaic Fetuses with Small Ring X Chromosomes

Pierre Robin sequence and interstitial deletion 2q32.3-q33.2

Two New Cases of Papillary Renal Cell Carcinoma with t(X;1)(p11;q21) in Females

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly

Deregulation of hexose transporter expression in Caco-2 cells by ras and polyoma middle T oncogenes

A variant translocation (9;22; [formula omitted]) with local extramedullary monoblastic transformation in CML

Karyotypes of 1142 couples with recurrent abortion

Les techniques de cytogénétique moléculaire : principes et progrès

An aggressive Ewing sarcoma associated with a new variant translocation, t(4;11;22)(q25;q24;q12), hyperdiploid karyotype, and tetrasomy 8

Diaphanospondylodysostosis (DSD) : Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

22q11.2 duplication syndrome : Two new familial cases with some overlapping features with digeorge/velocardiofacial syndromes

Semen Analysis in Subfertile Balanced-Translocation Carriers

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)

Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

An aggressive Ewing sarcoma associated with a new variant translocation, t(4;11;22)(q25;q24;q12), hyperdiploid karyotype, and tetrasomy 8

Cholestérol et développement

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