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SMC5/6 acts jointly with Fanconi anemia factors to support DNA repair and genome stability

EMBO reports, 2020-02, Vol.21 (2), p.e48222-n/a

2020

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Mutations in the laminin α2-chain gene ( LAMA2 ) cause merosin-deficient congenital muscular dystrophy

Nature genetics, 1995-10, Vol.11 (2), p.216-218

1995

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Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

Human molecular genetics, 2005-01, Vol.14 (1), p.155-169

2005

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Beyond DNA repair and chromosome instability—Fanconi anaemia as a cellular senescence-associated syndrome

Cell death and differentiation, 2021-04, Vol.28 (4), p.1159-1173

2021

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Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

American journal of human genetics, 2002-08, Vol.71 (2), p.426-431

2002

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Fanconi anemia proteins counteract the implementation of the oncogene-induced senescence program

Scientific reports, 2019-11, Vol.9 (1), p.17024-11, Article 17024

2019

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SMC 5/6 acts jointly with Fanconi anemia factors to support DNA repair and genome stability

EMBO reports, 2020-02, Vol.21 (2)

2020

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Emery-Dreifuss muscular dystrophy

European journal of human genetics : EJHG, 2002-03, Vol.10 (3), p.157-161

2002

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The protein phosphatase 2A regulatory subunit PR70 is a gonosomal melanoma tumor suppressor gene

Science translational medicine, 2016-12, Vol.8 (369), p.369ra177

2016

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Abstract 5528: The protein phosphatase 2A regulatory subunit PR70 is a gonosomal melanoma tumor suppressor gene

Cancer research (Chicago, Ill.), 2017-07, Vol.77 (13_Supplement), p.5528-5528

2017

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Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy

Neuromuscular disorders : NMD, 1997-10, Vol.7, p.S63-S69

1997

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Sex ratio among the offspring of BRCA mutation carriers

JAMA : the journal of the American Medical Association, 2004-08, Vol.292 (6), p.687

2004

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Cellular uptake of cationic lipid/DNA complexes by cultured myoblasts and myotubes

Biochimica et biophysica acta, 1999-04, Vol.1418 (1), p.165-175

1999

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Abstract 4835: Gonosome-linked expression of PPP2R3B in cutaneous melanoma correlates with distant metastasis free survival

Cancer research (Chicago, Ill.), 2011-04, Vol.71 (8_Supplement), p.4835-4835

2011

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PCR based mutation screening of the laminin α2 chain gene (LAMA2) : application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

Journal of medical genetics, 1998, Vol.35 (3), p.211-217

1998

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Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

Journal of medical genetics, 1997, Vol.34 (2), p.99-104

1997

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Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings

Neuromuscular disorders : NMD, 1998-05, Vol.8 (3), p.169-174

1998

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Heterozygote BRCA1 status and skewed chromosome X inactivation

Familial cancer, 2007-03, Vol.6 (1), p.153-157

2007

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The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

Human genetics, 1997-04, Vol.99 (4), p.535-540

1997

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Effects of estrogen-only treatment in postmenopausal women

JAMA : the journal of the American Medical Association, 2004-08, Vol.292 (6), p.683

Meyer, Vicki F

2004

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Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

Neuromuscular disorders : NMD, 1997, Vol.7 (3), p.180-186

1997

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Diseases Of Striated Muscles. Neuromuscular Diseases
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Female
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Male
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Neurology
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Congenital Muscular Dystrophy
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Fanconi Anemia - Genetics
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SMC5/6 acts jointly with Fanconi anemia factors to support DNA repair and genome stability

Mutations in the laminin α2-chain gene ( LAMA2 ) cause merosin-deficient congenital muscular dystrophy

Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

Beyond DNA repair and chromosome instability—Fanconi anaemia as a cellular senescence-associated syndrome

Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

Fanconi anemia proteins counteract the implementation of the oncogene-induced senescence program

SMC 5/6 acts jointly with Fanconi anemia factors to support DNA repair and genome stability

Emery-Dreifuss muscular dystrophy

The protein phosphatase 2A regulatory subunit PR70 is a gonosomal melanoma tumor suppressor gene

Abstract 5528: The protein phosphatase 2A regulatory subunit PR70 is a gonosomal melanoma tumor suppressor gene

Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy

Sex ratio among the offspring of BRCA mutation carriers

Cellular uptake of cationic lipid/DNA complexes by cultured myoblasts and myotubes

Abstract 4835: Gonosome-linked expression of PPP2R3B in cutaneous melanoma correlates with distant metastasis free survival

PCR based mutation screening of the laminin α2 chain gene (LAMA2) : application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings

Heterozygote BRCA1 status and skewed chromosome X inactivation

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

Effects of estrogen-only treatment in postmenopausal women

Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

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