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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

Nature genetics, 1997-03, Vol.15 (3), p.266-268

1997

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Novel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-optic dysplasia

American journal of neuroradiology : AJNR, 2012-02, Vol.33 (2), p.E16-E18

2012

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Dental Abnormalities in Schimke Immuno-osseous Dysplasia

Journal of dental research, 2012-07, Vol.91 (7_suppl), p.S29-S37

2012

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Congenital microgastria and limb reduction defects

Pediatrics (Evanston), 1993-06, Vol.91 (6), p.1192-1194

1993

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Overgrowth syndromes

Pediatric annals, 1990-02, Vol.19 (2), p.119, 122-137

Olney, A H

1990

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Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

American journal of human genetics, 2003-04, Vol.72 (4), p.918-930

2003

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Velocardiofacial syndrome (Shprintzen syndrome, chromosome 22q11 deletion syndrome)

Ear, nose, & throat journal, 1998-06, Vol.77 (6), p.460-461

1998

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Using charged device model testing to eliminate real-world ESD failures

Microelectronics and reliability, 1998-01, Vol.38 (1), p.129-143

Olney, Andrew H.

1998

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Hypothalamic dysfunction with polydactyly and hypoplastic nails

Seminars in pediatric neurology, 1999-09, Vol.6 (3), p.238-242

1999

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Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies

American journal of medical genetics, 1994-03, Vol.50 (1), p.46-50

1994

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Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations

Genetics in medicine, 2008-04, Vol.10 (4), p.262-266

2008

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Report from the workshop on Pallister-Hall syndrome and related phenotypes

American journal of medical genetics, 1996-10, Vol.65 (1), p.76-81

1996

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Stickler syndrome

Ear, nose, & throat journal, 1997-10, Vol.76 (10), p.706-706

1997

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Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q;14q) as a common mechanism

American journal of medical genetics, 1989-12, Vol.34 (4), p.528-534

1989

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Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies

American journal of medical genetics, 1993-07, Vol.46 (6), p.706-711

1993

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Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins

American journal of medical genetics, 1988-03, Vol.29 (3), p.491-499

1988

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Safety and efficacy of eltrombopag for treatment of chronic immune thrombocytopenia: results of the long-term, open-label EXTEND study

Blood, 2013-01, Vol.121 (3), p.537-545

2013

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Mapping of the human complement factor I gene to 4q25

Genomics (San Diego, Calif.), 1989, Vol.4 (1), p.82-86

1989

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Informed consent for medical photographs

Genetics in medicine, 2000, Vol.2 (6), p.353-355

2000

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Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts

Neuromuscular disorders : NMD, 2006-02, Vol.16 (2), p.132-136

2006

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Waardenburg syndrome

Ear, nose, & throat journal, 1998-04, Vol.77 (4), p.257-258

1998

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Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome)

Ear, nose, & throat journal, 1998-03, Vol.77 (3), p.172-172

1998

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Pallister-Hall syndrome

Ear, nose, & throat journal, 1998-05, Vol.77 (5), p.370-370

1998

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Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)

American journal of medical genetics. Part A, 2005-09, Vol.138A (1), p.51-55

2005

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Turner syndrome

Ear, nose, & throat journal, 1998-10, Vol.77 (10), p.812-812

1998

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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

Novel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-optic dysplasia

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

Congenital microgastria and limb reduction defects

Overgrowth syndromes

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Velocardiofacial syndrome (Shprintzen syndrome, chromosome 22q11 deletion syndrome)

Using charged device model testing to eliminate real-world ESD failures

Hypothalamic dysfunction with polydactyly and hypoplastic nails

Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations

Report from the workshop on Pallister-Hall syndrome and related phenotypes

Stickler syndrome

Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q;14q) as a common mechanism

Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies

Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins

Safety and efficacy of eltrombopag for treatment of chronic immune thrombocytopenia: results of the long-term, open-label EXTEND study

Mapping of the human complement factor I gene to 4q25

Informed consent for medical photographs

Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts

Waardenburg syndrome

Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome)

Pallister-Hall syndrome

Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)

Turner syndrome

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