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FOXO1-FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma

Modern pathology, 2011-10, Vol.24 (10), p.1327-1335

2011

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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

Nature genetics, 1994-02, Vol.6 (2), p.168-173

1994

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Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal

American journal of human genetics, 1995-11, Vol.57 (5), p.1028-1036

1995

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Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity

American journal of human genetics, 1998-11, Vol.63 (5), p.1388-1395

1998

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Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype

American journal of human genetics, 1998-02, Vol.62 (2), p.495-498

1998

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OA1 Mutations and Deletions in X-Linked Ocular Albinism

American journal of human genetics, 1998-04, Vol.62 (4), p.800-809

1998

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5p14 deletion associated with microcephaly and seizures

Journal of medical genetics, 2000-02, Vol.37 (2), p.125-127

2000

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Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics

Genetics in medicine, 2017-03, Vol.19 (3), p.294-296

2017

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Characterization of a Wilms tumor in a 9‐year‐old girl with trisomy 18

American journal of medical genetics. Part A, 2003-08, Vol.121A (1), p.52-55

2003

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A report of three patients with an interstitial deletion of chromosome 15q24

American journal of medical genetics. Part A, 2005-08, Vol.137A (1), p.65-71

2005

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Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3187-3193

2014

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Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16

American journal of human genetics, 1996-11, Vol.59 (5), p.1097-1107

1996

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Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21

Human molecular genetics, 1996-02, Vol.5 (2), p.223-229

1996

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PRENATAL DIAGNOSIS OF THE 22q11 DELETION SYNDROME

Prenatal diagnosis, 1997-04, Vol.17 (4), p.380-383

1997

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A Dysmorphic Newborn Infant with a Complex Rearrangement Involving Chromosomes 2, 4, and 6 Detected by Fluorescence In Situ Hybridization (FISH)

American journal of perinatology, 2004-02, Vol.21 (2), p.69-71

2004

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Hyperdiploidy and trisomy 12 in the cystic partially differentiated nephroblastoma

Human pathology, 1996-09, Vol.27 (9), p.980-981

1996

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Chromosome rearrangement with no apparent gene mutation in familial adenomatous polyposis and hepatocellular neoplasia

Pediatric and developmental pathology, 2002-01, Vol.5 (1), p.69-75

2002

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Consistent aneuploidies in choroid plexus papillomas

Genes chromosomes & cancer, 1999-03, Vol.24 (3), p.293-293

1999

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Improvement of pancytopenia and thrombocytopenia with decreasing mosaicism for isochromosome Xp

Pediatric Blood & Cancer, 2009-05, Vol.52 (5), p.650-652

2009

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A new point mutation in the β-hexosaminidase α subunit gene responsible for infantile tay-sachs disease in a non-jewish caucasian patient (a Kpn mutant)

American journal of human genetics, 1990-09, Vol.47 (3), p.567-574

1990

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An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry

American journal of human genetics, 1989-11, Vol.45 (5), p.706-720

1989

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Old Syndromes and New Cytogenetics

Developmental medicine and child neurology, 1990-09, Vol.32 (9), p.824-831

1990

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Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

Human genetics, 1991-11, Vol.88 (1), p.1-12

1991

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Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families

Human molecular genetics, 1995-04, Vol.4 (4), p.515-521

1995

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The association of the DiGeorge anomalad with partial monosomy of chromosome 22

The Journal of pediatrics, 1982-08, Vol.101 (2), p.197-200

1982

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FOXO1-FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal

Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity

Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype

OA1 Mutations and Deletions in X-Linked Ocular Albinism

5p14 deletion associated with microcephaly and seizures

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics

Characterization of a Wilms tumor in a 9‐year‐old girl with trisomy 18

A report of three patients with an interstitial deletion of chromosome 15q24

Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature

Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16

Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21

PRENATAL DIAGNOSIS OF THE 22q11 DELETION SYNDROME

A Dysmorphic Newborn Infant with a Complex Rearrangement Involving Chromosomes 2, 4, and 6 Detected by Fluorescence In Situ Hybridization (FISH)

Hyperdiploidy and trisomy 12 in the cystic partially differentiated nephroblastoma

Chromosome rearrangement with no apparent gene mutation in familial adenomatous polyposis and hepatocellular neoplasia

Consistent aneuploidies in choroid plexus papillomas

Improvement of pancytopenia and thrombocytopenia with decreasing mosaicism for isochromosome Xp

A new point mutation in the β-hexosaminidase α subunit gene responsible for infantile tay-sachs disease in a non-jewish caucasian patient (a Kpn mutant)

An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry

Old Syndromes and New Cytogenetics

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families

The association of the DiGeorge anomalad with partial monosomy of chromosome 22

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