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The origin of four squirrel monkey cell lines established by karyotype analysis

Cytogenetic and genome research, 2001-01, Vol.93 (3-4), p.263-264

2001

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High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample

Journal of medical genetics, 2001-12, Vol.38 (12), p.882-884

2001

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DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients

Cytogenetics and cell genetics, 2000, Vol.89 (1-2), p.121

2000

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Correction of sphingomyelinase deficiency in Niemann‐Pick type C fibroblasts by removal of lipoprotein fraction from culture media

Journal of inherited metabolic disease, 1989-06, Vol.12 (2), p.139-151

1989

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Partial monosomy 21, diminished activity of superoxide dismutase, and pulmonary oxygen toxicity

The New England journal of medicine, 1988-06, Vol.318 (25), p.1666-1669

1988

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Isodicentric Y chromosome : cytogenetic, molecular and clinical studies and review of the literature

Human genetics, 1995-07, Vol.96 (1), p.119-129

1995

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Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH)

American journal of medical genetics, 1998-12, Vol.80 (5), p.487-490

1998

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SRVX, a sex reversing locus in Xp21.2→p22.11

Human genetics, 1994-04, Vol.93 (4), p.389-393

1994

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1p microdeletion in sibs with minimal phenotypic manifestations

American journal of medical genetics, 1999-01, Vol.82 (2), p.107-109

1999

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Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies

Cytogenetic and genome research, 1993-01, Vol.63 (3), p.169-175

1993

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A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

Human genetics, 1993-09, Vol.92 (2), p.117-121

1993

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Cancer susceptibility in ataxia-telangiectasia

Leukemia, 1992, Vol.6, p.8-13

1992

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Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel

Genetics in medicine, 2001-03, Vol.3 (2), p.126-131

2001

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Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells

Chromosoma, 2005-07, Vol.114 (2), p.118-126

2005

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Adrenal insufficiency in Smith-Lemli-Opitz syndrome

American journal of medical genetics, 1999-02, Vol.82 (5), p.382-384

1999

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Gene symbol: RPS6KA3

Human genetics, 2007-04, Vol.121 (2), p.288-288

2007

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Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13

Molecular biology & medicine, 1990-12, Vol.7 (6), p.479

1990

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Fertility and the cri du chat syndrome

Clinical genetics, 1993-04, Vol.43 (4), p.212-214

1993

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An HLA-haplotype associated with preeclampsia and intrauterine growth retardation

American journal of reproductive immunology (1989), 1994-05, Vol.31 (4), p.177-179

1994

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NOR associations with heterochromatin

Cytogenetic and genome research, 1984-01, Vol.38 (3), p.165-170

1984

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Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism

Chromosoma, 1991-05, Vol.100 (4), p.251-261

1991

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Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

Human genetics, 1988-03, Vol.78 (3), p.267-270

1988

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Hyperlipidemia, insulin-dependent diabetes mellitus, and rapidly progressive diabetic retinopathy and nephropathy in Prader-Willi syndrome with del(15)(q11.2q13)

American journal of medical genetics, 1997-08, Vol.71 (3), p.267-270

1997

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Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization

American journal of medical genetics, 1995-03, Vol.56 (2), p.219-223

1995

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De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland

American journal of medical genetics, 1995-02, Vol.55 (4), p.489-493

1995

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The origin of four squirrel monkey cell lines established by karyotype analysis

High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample

DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients

Correction of sphingomyelinase deficiency in Niemann‐Pick type C fibroblasts by removal of lipoprotein fraction from culture media

Partial monosomy 21, diminished activity of superoxide dismutase, and pulmonary oxygen toxicity

Isodicentric Y chromosome : cytogenetic, molecular and clinical studies and review of the literature

Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH)

SRVX, a sex reversing locus in Xp21.2→p22.11

1p microdeletion in sibs with minimal phenotypic manifestations

Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies

A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

Cancer susceptibility in ataxia-telangiectasia

Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel

Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells

Adrenal insufficiency in Smith-Lemli-Opitz syndrome

Gene symbol: RPS6KA3

Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13

Fertility and the cri du chat syndrome

An HLA-haplotype associated with preeclampsia and intrauterine growth retardation

NOR associations with heterochromatin

Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism

Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

Hyperlipidemia, insulin-dependent diabetes mellitus, and rapidly progressive diabetic retinopathy and nephropathy in Prader-Willi syndrome with del(15)(q11.2q13)

Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization

De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland

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