Found: 29
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Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3027, doi. 10.1002/ajmg.a.36751
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- Publication type:
- Article
An Integrated Diagnosis Strategy for Congenital Myopathies.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067527
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- Publication type:
- Article
Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 2, p. 280, doi. 10.1002/mus.22118
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- Publication type:
- Article
Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor.
- Published in:
- International Archives of Allergy & Immunology, 2015, v. 166, n. 2, p. 114, doi. 10.1159/000376547
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- Publication type:
- Article
One hypovolaemic shock…two kinin pathway abnormalities.
- Published in:
- 2011
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- Publication type:
- Case Study
One hypovolaemic shock...two kinin pathway abnormalities.
- Published in:
- 2011
- By:
- Publication type:
- Letter
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 494, doi. 10.1093/brain/aws348
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- Publication type:
- Article
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.
- Published in:
- Brain: A Journal of Neurology, 2003, v. 126, n. 11, p. 2341, doi. 10.1093/brain/awg244
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- Publication type:
- Article
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
- Published in:
- Annals of Neurology, 2008, v. 63, n. 3, p. 329, doi. 10.1002/ana.21308
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- Publication type:
- Article
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 6, p. 750, doi. 10.1002/ana.10231
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- Publication type:
- Article
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2279, doi. 10.1093/hmg/ddt618
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- Publication type:
- Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514
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- Publication type:
- Article
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 20, p. 4473, doi. 10.1093/hmg/dds289
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- Publication type:
- Article
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2759, doi. 10.1093/hmg/dds104
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- Publication type:
- Article
From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
- Published in:
- Human Mutation, 2011, v. 32, n. 4, p. 379, doi. 10.1002/humu.21391
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- Publication type:
- Article
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. E1544, doi. 10.1002/humu.21278
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- Publication type:
- Article
Mutations and polymorphisms of the skeletal muscle α-actin gene ( ACTA1).
- Published in:
- 2009
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- Publication type:
- Other
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
- Published in:
- 2009
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- Publication type:
- Other
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
- Published in:
- Human Mutation, 2008, v. 29, n. 5, p. 670, doi. 10.1002/humu.20696
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- Publication type:
- Article
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 196, doi. 10.1002/humu.20428
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- Publication type:
- Article
Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 295, doi. 10.1002/humu.9414
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- Publication type:
- Article
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
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- Human Mutation, 2005, v. 26, n. 5, p. 413, doi. 10.1002/humu.20231
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- Publication type:
- Article
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1171, doi. 10.1093/hmg/ddg121
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- Publication type:
- Article
Familial and sporadic forms ofcentral core disease are associated with mutations in the C-terminaldomain of the skeletal muscle ryanodine receptor.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 22, p. 2581, doi. 10.1093/hmg/10.22.2581
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- Publication type:
- Article
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2599, doi. 10.1093/hmg/9.18.2599
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- Publication type:
- Article
CFTR genotypes in patients with normal or borderline sweat chloride levels<FN ID="fn1">Communicated by Xavier Estivill</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #654 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/654.pdf</FN>
- Published in:
- Human Mutation, 2003, v. 22, n. 4, p. 340, doi. 10.1002/humu.9183
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- Publication type:
- Article
OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling.
- Published in:
- Human Mutation, 2000, v. 16, n. 2, p. 157, doi. 10.1002/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9
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- Publication type:
- Article
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
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- Human Mutation, 2000, v. 16, n. 2, p. 143, doi. 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J
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- Publication type:
- Article
A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 6, p. 953, doi. 10.1093/hmg/6.6.953
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- Publication type:
- Article