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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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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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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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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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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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Possible Graft-versus-Host Reaction after Intrauterine Transfusion for Rh Erythroblastosis Fetalis

The New England journal of medicine, 1969-09, Vol.281 (13), p.697-701

1969

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Clonal abnormalities in a recurrent laryngeal papilloma

Cancer genetics and cytogenetics, 2005-06, Vol.159 (2), p.190-191

2005

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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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A second case of myelodysplastic syndrome with t(9;12)(q22;p12)

Cancer genetics and cytogenetics, 2005-03, Vol.157 (2), p.187-188

2005

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Translocation (16;18)(p13;q21.3) in follicular lymphoma

Cancer genetics and cytogenetics, 2004-10, Vol.154 (2), p.160-162

2004

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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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Consistency of Isochromosome 7q and Trisomy 8 in Hepatosplenic γδ T-cell Lymphoma: Detection by Fluorescence in Situ Hybridization of a Splenic Touch-Preparation from a Pediatric Patient

Pediatric and developmental pathology, 1999-09, Vol.2 (5), p.478-483

1999

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Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepato-renal syndrome of zellweger

Annals of neurology, 1977-12, Vol.2 (6), p.473-484

1977

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Induction of Leucocyte Growth in Cultures of Human Peripheral Blood

Nature (London), 1963-06, Vol.198 (4886), p.1173-1175

1963

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Lymphocytes in Congenital Absence of the Thymus

Nature (London), 1967-01, Vol.214 (5088), p.580-582

1967

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Limitations of Metachromasia as a Diagnostic Aid in Pediatrics

The New England journal of medicine, 1969-11, Vol.281 (20), p.1108-1111

1969

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Quinacrine fluorescence and Giemsa banding in trisomy 22

Theoretical and applied genetics, 1973, Vol.43 (3-4), p.134-138

1973

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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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A new point mutation in the beta-hexosaminidase alpha 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.568-574

1990

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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

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

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

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

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

Possible Graft-versus-Host Reaction after Intrauterine Transfusion for Rh Erythroblastosis Fetalis

Clonal abnormalities in a recurrent laryngeal papilloma

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

A second case of myelodysplastic syndrome with t(9;12)(q22;p12)

Translocation (16;18)(p13;q21.3) in follicular lymphoma

PRENATAL DIAGNOSIS OF THE 22q11 DELETION SYNDROME

Consistency of Isochromosome 7q and Trisomy 8 in Hepatosplenic γδ T-cell Lymphoma: Detection by Fluorescence in Situ Hybridization of a Splenic Touch-Preparation from a Pediatric Patient

Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepato-renal syndrome of zellweger

Induction of Leucocyte Growth in Cultures of Human Peripheral Blood

Lymphocytes in Congenital Absence of the Thymus

Limitations of Metachromasia as a Diagnostic Aid in Pediatrics

Quinacrine fluorescence and Giemsa banding in trisomy 22

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

A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)

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