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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Nature communications, 2020-07, Vol.11 (1), p.3698-3698, Article 3698

2020

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Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation

Endocrinology, diabetes & metabolism case reports, 2020-10, Vol.2020 (1), p.1-5

2020

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Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.152-156

2011

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Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis

Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.349-357

2011

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

American journal of human genetics, 2016-11, Vol.99 (5), p.1005-1014

2016

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Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations

American journal of human genetics, 1998-06, Vol.62 (6), p.1370-1380

1998

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Craniosynostosis syndromes in the genomic era

Seminars in pediatric neurology, 2004-12, Vol.11 (4), p.256-261

Aleck, Kirk

2004

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Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.643-650

2011

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Experience of the nutritional management of infantile onset lysosomal acid lipase deficiency (LALD)

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S51-S51

2018

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Initial report from the Hunter Outcome Survey

Genetics in medicine, 2008-07, Vol.10 (7), p.508-516

2008

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Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.534-543

2009

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Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

Genetics in medicine, 2011-07, Vol.13 (7), p.625-631

2011

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Excessive obesity in offspring of Pima Indian women with diabetes during pregnancy

The New England journal of medicine, 1983-02, Vol.308 (5), p.242

1983

Volltextzugriff (PDF)

Fumaric aciduria: Clinical and imaging features

Annals of neurology, 2000-05, Vol.47 (5), p.583-588

2000

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Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase a enzyme assay is essential for accurate testing

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2444-2447

2009

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Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-Up Study: A collaborative multi-site approach to newborn screening outcomes research

Genetics in medicine, 2010-12, Vol.12 (12 Suppl), p.S228-S241

2010

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Obesity in offspring of diabetic Pima Indian women despite normal birth weight

Diabetes care, 1987-01, Vol.10 (1), p.76

1987

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Further delineation of Kabuki syndrome in 48 well-defined new individuals

American journal of medical genetics, 2005-01, Vol.132A (3), p.265-272

2005

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94. Clinical phenotype of North American patients with Hunter syndrome: Data from HOS: The Hunter Outcome Survey

Molecular genetics and metabolism, 2009-02, Vol.96 (2), p.S32-S33

2009

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Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome

Clinical chemistry (Baltimore, Md.), 2006-01, Vol.52 (1), p.46-52

2006

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Congenital susceptibility to NIDDM. Role of intrauterine environment

Diabetes (New York, N.Y.), 1988-05, Vol.37 (5), p.622

1988

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CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer

American journal of medical genetics, 2004-06, Vol.127A (3), p.268-276

2004

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Gestational diabetes mellitus and impaired glucose tolerance during pregnancy. Long-term effects on obesity and glucose tolerance in the offspring

Diabetes (New York, N.Y.), 1985-06, Vol.34 Suppl 2, p.119

1985

Volltextzugriff (PDF)

Identification of Two Novel Mutations in the Hypoglycemic Phenotype of Very Long Chain Acyl-CoA Dehydrogenase Deficiency

Biochemical and biophysical research communications, 1999-10, Vol.264 (2), p.483-487

1999

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In utero central nervous system damage in pyruvate dehydrogenase deficiency

Archives of neurology (Chicago), 1988-09, Vol.45 (9), p.987

1988

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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Severe early onset obesity and hypopituitarism in a child with a novel SIM1 gene mutation

Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations

Craniosynostosis syndromes in the genomic era

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy

Experience of the nutritional management of infantile onset lysosomal acid lipase deficiency (LALD)

Initial report from the Hunter Outcome Survey

Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

Excessive obesity in offspring of Pima Indian women with diabetes during pregnancy

Fumaric aciduria: Clinical and imaging features

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase a enzyme assay is essential for accurate testing

Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-Up Study: A collaborative multi-site approach to newborn screening outcomes research

Obesity in offspring of diabetic Pima Indian women despite normal birth weight

Further delineation of Kabuki syndrome in 48 well-defined new individuals

94. Clinical phenotype of North American patients with Hunter syndrome: Data from HOS: The Hunter Outcome Survey

Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome

Congenital susceptibility to NIDDM. Role of intrauterine environment

CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer

Gestational diabetes mellitus and impaired glucose tolerance during pregnancy. Long-term effects on obesity and glucose tolerance in the offspring

Identification of Two Novel Mutations in the Hypoglycemic Phenotype of Very Long Chain Acyl-CoA Dehydrogenase Deficiency

In utero central nervous system damage in pyruvate dehydrogenase deficiency

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