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Distinct phenotypes distinguish the molecular classes of Angelman syndrome

Journal of medical genetics, 2001-12, Vol.38 (12), p.834-845

2001

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Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.103-106

2009

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Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: Case report

Human reproduction (Oxford), 2004-12, Vol.19 (12), p.2816-2821

2004

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Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.308-314

2012

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Telegenetic medicine: improved access to services in an underserved area

Journal of telemedicine and telecare, 2006-06, Vol.12 (4), p.182-185

2006

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A New Case of Pure Partial 7q Duplication

Cytogenetic and genome research, 2012-01, Vol.136 (1), p.1-5

2012

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High cognitive functioning and behavioral phenotype in Pallister‐Killian syndrome

American journal of medical genetics. Part A, 2006-09, Vol.140A (18), p.1950-1954

2006

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Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals

American journal of medical genetics, 2004-01, Vol.124A (2), p.158-164

2004

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A family with a grand-maternally derived interstitial duplication of proximal 15q

Clinical genetics, 2001-12, Vol.60 (6), p.421-430

2001

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Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome

American journal of medical genetics, 1998-12, Vol.80 (4), p.399-402

1998

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A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes

Genomics (San Diego, Calif.), 1992-08, Vol.13 (4), p.917-924

1992

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Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Genomics (San Diego, Calif.), 1999-05, Vol.58 (1), p.34-40

1999

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A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX

Clinical genetics, 2001-07, Vol.60 (1), p.73-76

2001

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Lack of X inactivation associated with maternal X isodisomy : Evidence for a counting mechanism prior to X inactivation during human embryogenesis

American journal of human genetics, 1996, Vol.58 (1), p.161-170

1996

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Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: A new syndrome?

American journal of medical genetics, 1997-12, Vol.73 (3), p.247-250

1997

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A first generation cytogenetic ideogram for the Florida manatee (Trichechus manatus latirostris) based on multiple chromosome banding techniques

Hereditas, 2002-12, Vol.137 (3), p.215-223

2002

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Genetic insights into familial cancers – update and recent discoveries

Cancer Letters, 2002-07, Vol.181 (2), p.125-164

2002

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Angelman Syndrome: Clinical Profile

Journal of child neurology, 1992-07, Vol.7 (3), p.270-280

1992

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Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online

Human mutation, 1998, Vol.11 (5), p.411-411

1998

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Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

American journal of human genetics, 2005-04, Vol.76 (4), p.663-671

2005

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37. A novel and extreme case of a female patient with undetectable pyruvate dehydrogenase complex activity: Early responsiveness to diet and drug treatment

Mitochondrion, 2009-02, Vol.9 (1), p.70

2009

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Angelman syndrome: Consensus for diagnostic criteria

American journal of medical genetics, 1995-03, Vol.56 (2), p.237-238

1995

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Fine Mapping of Chromosome 17 Translocation Breakpoints greater than or equal to 900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

American journal of human genetics, 2005-04, Vol.76 (4), p.663-671

2005

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Reply to Unger: The mildest form of campomelic dysplasia

American journal of medical genetics. Part A, 2005-01, Vol.132A (1), p.114-115

2005

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Distinct phenotypes distinguish the molecular classes of Angelman syndrome

Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet

Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: Case report

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Telegenetic medicine: improved access to services in an underserved area

A New Case of Pure Partial 7q Duplication

High cognitive functioning and behavioral phenotype in Pallister‐Killian syndrome

Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals

A family with a grand-maternally derived interstitial duplication of proximal 15q

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome

A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes

Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX

Lack of X inactivation associated with maternal X isodisomy : Evidence for a counting mechanism prior to X inactivation during human embryogenesis

Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: A new syndrome?

A first generation cytogenetic ideogram for the Florida manatee (Trichechus manatus latirostris) based on multiple chromosome banding techniques

Genetic insights into familial cancers – update and recent discoveries

Angelman Syndrome: Clinical Profile

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online

Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

37. A novel and extreme case of a female patient with undetectable pyruvate dehydrogenase complex activity: Early responsiveness to diet and drug treatment

Angelman syndrome: Consensus for diagnostic criteria

Fine Mapping of Chromosome 17 Translocation Breakpoints greater than or equal to 900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia

Reply to Unger: The mildest form of campomelic dysplasia

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