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A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 5, p. 304, doi. 10.1111/j.1399-0004.1996.tb02379.x
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- Publication type:
- Article
Psychological and social impact of carrier screening for cystic fibrosis among pregnant women - a pilot study.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 4, p. 200, doi. 10.1111/j.1399-0004.1996.tb03287.x
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- Publication type:
- Article
Microsatellite analysis of urine sediment versus urine cytology for diagnosing transitional cell tumors of the urinary bladder.
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- APMIS, 2004, v. 112, n. 2, p. 148, doi. 10.1111/j.1600-0463.2004.apm1120210.x
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- Publication type:
- Article
Hurler/Scheie Phenotype.
- Published in:
- Ophthalmologica, 1978, v. 176, n. 4, p. 194, doi. 10.1159/000308739
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- Publication type:
- Article
P3-237: Experiences from genetic testing in familial Alzheimer's disease and frontotemporal dementia: Mutation and phenotype spectrum in a Danish cohort
- Published in:
- 2008
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- Publication type:
- Abstract
P3-280: Alzheimer's disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation
- Published in:
- 2008
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- Publication type:
- Abstract
P1-314: A novel PSEN2 mutation in early-onset dementia with profound semantic loss
- Published in:
- 2006
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- Publication type:
- Abstract
P1-314: A novel PSEN2 mutation in early-onset dementia with profound semantic loss
- Published in:
- 2006
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- Publication type:
- Abstract
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.
- Published in:
- Nature Genetics, 2001, v. 27, n. 3, p. 313, doi. 10.1038/85886
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- Publication type:
- Article
GENETIC COUNSELLING AND PRENATAL DIAGNOSIS OF OSTEOGENESIS IMPERFECTA CAUSED BY PATERNAL MOSAICISM.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 11, p. 1032, doi. 10.1002/(SICI)1097-0223(199611)16:11<1032::AID-PD984>3.0.CO;2-9
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- Publication type:
- Article
FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CROUZON SYNDROME.
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- Prenatal Diagnosis, 1996, v. 16, n. 2, p. 155, doi. 10.1002/(SICI)1097-0223(199602)16:2<155::AID-PD826>3.0.CO;2-7
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- Publication type:
- Article
Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination.
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- Prenatal Diagnosis, 1994, v. 14, n. 2, p. 149, doi. 10.1002/pd.1970140212
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- Publication type:
- Article
Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion.
- Published in:
- 1992
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- Publication type:
- journal article
Disaccharidase deficiency in amniotic fluid from cases of cystic fibrosis.
- Published in:
- Prenatal Diagnosis, 1985, v. 5, n. 2, p. 145, doi. 10.1002/pd.1970050208
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- Publication type:
- Article
Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations.
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- Muscle & Nerve, 2010, v. 41, n. 5, p. 607, doi. 10.1002/mus.21541
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- Publication type:
- Article
Characterization of two new dominant ClC-1 channel mutations associated with myotonia.
- Published in:
- Muscle & Nerve, 2003, v. 28, n. 6, p. 722, doi. 10.1002/mus.10501
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- Publication type:
- Article
Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
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- Muscle & Nerve, 2003, v. 27, n. 4, p. 449, doi. 10.1002/mus.10347
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- Publication type:
- Article
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male.
- Published in:
- Developmental Medicine & Child Neurology, 2009, v. 51, n. 9, p. 754, doi. 10.1111/j.1469-8749.2008.03241.x
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- Publication type:
- Article
High Prevalence of Impaired Glucose Homeostasis and Myopathy in Asymptomatic and Oligosymptomatic 3243A>G Mitochondrial DNA Mutation-Positive Subjects
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 8, p. 2872, doi. 10.1210/jc.2009-0235
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- Publication type:
- Article
Impaired Cognitive Function in Women with Congenital Adrenal Hyperplasia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 4, p. 1376, doi. 10.1210/jc.2005-1959
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- Publication type:
- Article
Preserved Male Fertility Despite Decreased Androgen Sensitivity Caused by a Mutation in the Ligand-Binding Domain of the Androgen Receptor Gene.
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- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 6, p. 2253, doi. 10.1210/jcem.85.6.6626
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- Publication type:
- Article
Muscle structural changes in mitochondrial myopathy relate to genotype.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 11, p. 1328, doi. 10.1007/s00415-003-0206-1
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- Publication type:
- Article
Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.
- Published in:
- Human Genetics, 2004, v. 115, n. 6, p. 459, doi. 10.1007/s00439-004-1174-y
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- Publication type:
- Article
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1203, doi. 10.1038/ejhg.2012.108
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- Publication type:
- Article
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 51, doi. 10.1038/ejhg.2008.136
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- Publication type:
- Article
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 935, doi. 10.1038/ejhg.2008.47
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- Publication type:
- Article
Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1189, doi. 10.1038/sj.ejhg.5201682
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- Publication type:
- Article
Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA).
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- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 171, doi. 10.1038/sj.ejhg.5201307
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- Publication type:
- Article
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 738, doi. 10.1038/sj.ejhg.5201218
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- Publication type:
- Article
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
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- European Journal of Human Genetics, 2003, v. 11, n. 7, p. 547, doi. 10.1038/sj.ejhg.5201002
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- Publication type:
- Article
An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 10, p. 805, doi. 10.1038/sj.ejhg.5200712
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- Publication type:
- Article
MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 178, doi. 10.1038/sj.ejhg.5200600
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- Publication type:
- Article
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 367, doi. 10.1038/sj.ejhg.5200470
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- Publication type:
- Article
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 884, doi. 10.1038/sj.ejhg.5200398
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- Publication type:
- Article
X-linked ocular albinism: prevalence and mutations – a national study.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 570, doi. 10.1038/sj.ejhg.5200226
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- Publication type:
- Article
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 331, doi. 10.1038/sj.ejhg.5200194
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- Publication type:
- Article
High-resolution Melting Facilitates Mutation Screening of PYGM in Patients with McArdle Disease.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 3, p. 292, doi. 10.1111/j.1469-1809.2009.00512.x
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- Publication type:
- Article
dHPLC Screening of theNSD1gene Identifies Nine Novel Mutations– Summary of the first 100 Sotos Syndrome Mutations.
- Published in:
- Annals of Human Genetics, 2005, v. 69, n. 2, p. 222, doi. 10.1046/j.1469-1809.2004.00150.x
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- Publication type:
- Article
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 6, p. 1545, doi. 10.1093/brain/awp065
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- Publication type:
- Article
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 853, doi. 10.1093/brain/awl383
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- Publication type:
- Article
Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 12, p. 3402, doi. 10.1093/brain/awl149
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- Publication type:
- Article
High prevalence and phenotype–genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 5, p. 808, doi. 10.1002/ana.20824
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- Publication type:
- Article
Oxidative capacity correlates with muscle mutation load in mitochondrial myopathy.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 1, p. 86
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- Publication type:
- Article
Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients.
- Published in:
- Acta Ophthalmologica (1755375X), 1994, v. 72, n. 6, p. 678, doi. 10.1111/j.1755-3768.1994.tb04679.x
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- Publication type:
- Article
Åland Eye Disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family.
- Published in:
- Acta Ophthalmologica (1755375X), 1990, v. 68, n. 3, p. 281, doi. 10.1111/j.1755-3768.1990.tb01923.x
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- Publication type:
- Article
Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood.
- Published in:
- Pediatric Diabetes, 2007, v. 8, n. 4, p. 239, doi. 10.1111/j.1399-5448.2007.00251.x
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- Publication type:
- Article
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1093, doi. 10.1002/humu.21011
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- Publication type:
- Article
Deletion of exon 16 of the dystrophin gene is not associated with disease.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 205, doi. 10.1002/humu.9477
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- Publication type:
- Article