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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

American journal of human genetics, 2011-09, Vol.89 (3), p.407-414

2011

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Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome

American journal of human genetics, 2009-06, Vol.84 (6), p.728-739

2009

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Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I

Annals of neurology, 2004-11, Vol.56 (5), p.738-741

2004

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Nature (London), 2011-10, Vol.478 (7367), p.57-63

2011

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Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene

American journal of human genetics, 2002-03, Vol.70 (3), p.663-672

2002

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Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H

Annals of neurology, 2005-04, Vol.57 (4), p.591-595

2005

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Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H

Human mutation, 2009-09, Vol.30 (9), p.E831-E844

2009

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Novel GDI1 mutation in a large family with nonsyndromic X‐linked intellectual disability

American journal of medical genetics. Part A, 2011-12, Vol.155 (12), p.3067-3070

2011

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Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

Human molecular genetics, 1999-05, Vol.8 (5), p.871-877

1999

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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Neuromuscular disorders : NMD, 2000-12, Vol.10 (8), p.553-559

2000

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Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I

European journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.978-982

2005

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A Gene for Autosomal Recessive Limb-Girdle Muscular Dystrophy in Manitoba Hutterites Maps to Chromosome Region 9q31-q33: Evidence for Another Limb-Girdle Muscular Dystrophy Locus

American journal of human genetics, 1998-07, Vol.63 (1), p.140-147

1998

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The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaB

The Journal of biological chemistry, 2006-09, Vol.281 (35), p.25850

2006

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Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype

American journal of human genetics, 1996-10, Vol.59 (4), p.872-878

1996

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A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3

American journal of medical genetics, 2005-01, Vol.132A (2), p.136-143

2005

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The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations

Human mutation, 2005-01, Vol.25 (1), p.38-44

2005

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Comparison of the segregation of the RYR1/C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family

Anesthesiology (Philadelphia), 1996-02, Vol.84 (2), p.322-329

1996

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Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval

American journal of human genetics, 1994-06, Vol.54 (6), p.1050-1059

1994

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The 56 kDa androgen binding protein is an aldehyde dehydrogenase

Biochemical and biophysical research communications, 1991-03, Vol.175 (3), p.831-838

1991

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Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred

Human mutation, 1995, Vol.5 (1), p.28-33

1995

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Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy

Journal of the neurological sciences, 1992-10, Vol.112 (1), p.133-138

1992

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The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene

Molecular and cellular endocrinology, 1991, Vol.75 (1), p.37-47

1991

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Partial androgen insensitivity—are all tissues equal?

Fertility and sterility, 1993-08, Vol.60 (2), p.366-368

1993

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The 56 kDa androgen-binding protein in human genital skin fibroblasts: its relation to the human androgen receptor

Molecular and cellular endocrinology, 1990-01, Vol.68 (2), p.195-204

1990

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An abundant 56 kD protein with low affinity androgen binding: Another member of the steroid/thyroid receptor family?

Biochemical and biophysical research communications, 1988-09, Vol.155 (2), p.907-913

1988

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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H

Novel GDI1 mutation in a large family with nonsyndromic X‐linked intellectual disability

Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s)

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I

A Gene for Autosomal Recessive Limb-Girdle Muscular Dystrophy in Manitoba Hutterites Maps to Chromosome Region 9q31-q33: Evidence for Another Limb-Girdle Muscular Dystrophy Locus

The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaB

Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations

Comparison of the segregation of the RYR1/C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family

Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval

The 56 kDa androgen binding protein is an aldehyde dehydrogenase

Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred

Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy

The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene

Partial androgen insensitivity—are all tissues equal?

The 56 kDa androgen-binding protein in human genital skin fibroblasts: its relation to the human androgen receptor

An abundant 56 kD protein with low affinity androgen binding: Another member of the steroid/thyroid receptor family?

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