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Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)

Human genetics, 2003-10, Vol.113 (5), p.447-451

2003

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Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Prenatal diagnosis, 1992-07, Vol.12 (7), p.555-573

1992

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Characterization of Neo-Centromeres in Marker Chromosomes Lacking Detectable Alpha-satellite DNA

Human molecular genetics, 1997-08, Vol.6 (8), p.1195-1204

1997

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Clinical applications of comparative genomic hybridization

Genetics in medicine, 1998-11, Vol.1 (1), p.4-12

1998

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Paternal uniparental disomy for chromosome 14: A case report and review

American journal of medical genetics, 1997-05, Vol.70 (1), p.74-79

1997

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Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome

Journal of medical genetics, 1994-02, Vol.31 (2), p.121-125

1994

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A revisit of trisomy 20 mosaicism in prenatal diagnosis-an overview of 103 cases

Prenatal diagnosis, 1991-01, Vol.11 (1), p.7-15

1991

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Maternal serum screening should not replace amniocentesis

American journal of obstetrics and gynecology, 1995-09, Vol.173 (3), p.977-978

1995

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Trisomy 20 mosaicism in prenatal diagnosis-a review and update

Prenatal diagnosis, 1987-10, Vol.7 (8), p.581-596

1987

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Identification of chromosomal disorders--an update

Journal of pediatric ophthalmology and strabismus, 1983-03, Vol.20 (2), p.76-82

Kaffe, S

1983

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Unilateral microscopic gonadoblastoma in a prepubertal Turner mosaic with Y chromosome material identified by restriction fragment analysis

American journal of clinical pathology, 1988-11, Vol.90 (5), p.622-627

1988

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FETAL BLOOD SAMPLING IN INVESTIGATION OF CHROMOSOME MOSAICISM IN AMNIOTIC FLUID CELL CULTURE

The Lancet (British edition), 1988-07, Vol.332 (8605), p.284-284

1988

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Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

American journal of medical genetics, 2001-07, Vol.102 (1), p.76-80

2001

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Amniotic fluid alpha-fetoprotein levels and prenatal diagnosis of autosomal trisomies

Prenatal diagnosis, 1988-03, Vol.8 (3), p.183-187

1988

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A rare case of 68,XX triploidy diagnosed by amniocentesis

Prenatal diagnosis, 1989-12, Vol.9 (12), p.857-861

1989

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Reply to Drs. Bogart, Golbus, and Reynolds and Dawson

American journal of medical genetics, 1993-02, Vol.45 (3), p.396-396

1993

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Prenatal diagnosis of bilateral renal agenesis

Obstetrics and gynecology (New York. 1953), 1977-04, Vol.49 (4), p.478

1977

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ASSOCIATION OF 5q- AND REFRACTORY ANEMIA

Pediatric research, 1977-04, Vol.11 (4), p.458-458

1977

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Maternal serum α-fetoprotein screening and fetal chromosome anomalies: Is lowering maternal age for amniocentesis preferable?

American journal of medical genetics, 1992-04, Vol.42 (6), p.801-806

1992

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Association of 5q− and refractory anemia

American journal of hematology, 1978, Vol.4 (3), p.269-272

1978

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Partial deletion of long arm of chromosome 11: del (11) (q23)

Clinical genetics, 1977-12, Vol.12 (6), p.323-328

1977

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ACQUIRED TRISOMIES 12 AND 7

The Lancet (British edition), 1974-02, Vol.303 (7851), p.261-262

1974

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U cells contain contaminants

Nature (London), 1983-01, Vol.301 (5898), p.279-279

1983

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Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome

Journal of medical genetics, 1974-12, Vol.11 (4), p.378-379

1974

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Variable cell-mediated immune defects in a family with `Candida endocrinopathy syndrome

Clinical and experimental immunology, 1975-01, Vol.20 (3), p.397-408

1975

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Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Characterization of Neo-Centromeres in Marker Chromosomes Lacking Detectable Alpha-satellite DNA

Clinical applications of comparative genomic hybridization

Paternal uniparental disomy for chromosome 14: A case report and review

Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome

A revisit of trisomy 20 mosaicism in prenatal diagnosis-an overview of 103 cases

Maternal serum screening should not replace amniocentesis

Trisomy 20 mosaicism in prenatal diagnosis-a review and update

Identification of chromosomal disorders--an update

Unilateral microscopic gonadoblastoma in a prepubertal Turner mosaic with Y chromosome material identified by restriction fragment analysis

FETAL BLOOD SAMPLING IN INVESTIGATION OF CHROMOSOME MOSAICISM IN AMNIOTIC FLUID CELL CULTURE

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

Amniotic fluid alpha-fetoprotein levels and prenatal diagnosis of autosomal trisomies

A rare case of 68,XX triploidy diagnosed by amniocentesis

Reply to Drs. Bogart, Golbus, and Reynolds and Dawson

Prenatal diagnosis of bilateral renal agenesis

ASSOCIATION OF 5q- AND REFRACTORY ANEMIA

Maternal serum α-fetoprotein screening and fetal chromosome anomalies: Is lowering maternal age for amniocentesis preferable?

Association of 5q− and refractory anemia

Partial deletion of long arm of chromosome 11: del (11) (q23)

ACQUIRED TRISOMIES 12 AND 7

U cells contain contaminants

Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome

Variable cell-mediated immune defects in a family with `Candida endocrinopathy syndrome

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