Found: 36
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Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 7, p. 1039, doi. 10.1007/s00431-012-1672-1
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- Publication type:
- Article
Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S186, doi. 10.1007/PL00014400
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- Publication type:
- Article
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 5, p. 493, doi. 10.1111/j.1399-0004.2009.01261.x
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- Publication type:
- Article
Synaptic processes and immune-related pathways implicated in Tourette syndrome.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-020-01082-z
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- Publication type:
- Article
Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency).
- Published in:
- 1998
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- Publication type:
- journal article
Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Delayed Low Density Lipoprotein (LDL) Catabolism Despite a Functional Intact LDL-Apolipoprotein B Particle and LDL-Receptor in a Subject with Clinical Homozygous Familial Hypercholesterolemia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 6, p. 2167, doi. 10.1210/jcem.83.6.4840
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- Publication type:
- Article
Mutation at the SCA17 locus is not a common cause of primary dystonia.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 10, p. 1232, doi. 10.1007/s00415-004-0520-2
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- Publication type:
- Article
CFTR gene mutations and male infertility.
- Published in:
- Andrologia, 2000, v. 32, n. 2, p. 71, doi. 10.1046/j.1439-0272.2000.00327.x
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- Publication type:
- Article
Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1209, doi. 10.1038/ejhg.2012.131
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- Publication type:
- Article
Clinical utility gene card for: Haemochromatosis [HFE].
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2009.245
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- Publication type:
- Article
Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 417, doi. 10.1038/ejhg.2008.190
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- Publication type:
- Article
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations.
- Published in:
- 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
Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study.
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- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 69, doi. 10.1038/sj.ejhg.5201287
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- Publication type:
- Article
CFTR gene mutations in sarcoidosis.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 11, p. 729
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- Publication type:
- Article
Augmentation Index and the Evolution of Aortic Disease in Marfan-Like Syndromes.
- Published in:
- American Journal of Hypertension, 2010, v. 23, n. 7, p. 716, doi. 10.1038/ajh.2010.78
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- Publication type:
- Article
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.
- Published in:
- Nucleic Acids Research, 1998, v. 26, n. 1, p. 250, doi. 10.1093/nar/26.1.248
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- Publication type:
- Article
Genetic association signal near NTN4 in Tourette syndrome.
- Published in:
- 2014
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- Publication type:
- journal article
Genetic association signal near NTN 4 in Tourette syndrome.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 2, p. 310, doi. 10.1002/ana.24215
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- Publication type:
- Article
Diagnosis of Hereditary Hemochromatosis in the Era of Genetic Testing.
- Published in:
- Digestive Diseases & Sciences, 2012, v. 57, n. 11, p. 2988, doi. 10.1007/s10620-012-2243-z
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- Publication type:
- Article
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
- Published in:
- British Journal of Haematology, 2009, v. 144, n. 2, p. 185, doi. 10.1111/j.1365-2141.2008.07430.x
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- Publication type:
- Article
Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1197, doi. 10.1002/humu.21569
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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
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 320, doi. 10.1002/humu.9311
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- Publication type:
- Article
Increased seroprevalence of human herpes virus-8 in renal transplant recipients in Saudi Arabia.
- Published in:
- Nephrology Dialysis Transplantation, 2005, v. 20, n. 11, p. 2532, doi. 10.1093/ndt/gfi058
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- Publication type:
- Article
Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
- Published in:
- Movement Disorders, 2004, v. 19, n. 11, p. 1294, doi. 10.1002/mds.20128
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- Publication type:
- Article
Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 374, doi. 10.1002/1098-1004(200010)16:4<374::AID-HUMU16>3.0.CO;2-1
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- Publication type:
- Article
Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations.
- Published in:
- Human Mutation, 1999, v. 13, n. 3, p. 257, doi. 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU14>3.0.CO;2-D
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- Publication type:
- Article
Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.
- Published in:
- Human Mutation, 1998, v. 11, n. 1, p. 90, doi. 10.1002/(SICI)1098-1004(1998)11:1<90::AID-HUMU14>3.0.CO;2-U
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- Publication type:
- Article
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 219, doi. 10.1002/humu.1380060304
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- Publication type:
- Article
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.
- Published in:
- Human Mutation, 1995, v. 5, n. 3, p. 210, doi. 10.1002/humu.1380050305
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- Publication type:
- Article
Missense variation of the CFTR gene codon 507.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 165, doi. 10.1002/humu.1380010213
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- Publication type:
- Article
Qualitätssicherung in der humangenetischen Diagnostik.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2015, v. 58, n. 2, p. 121, doi. 10.1007/s00103-014-2089-y
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- Publication type:
- Article
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 1, p. 69, doi. 10.1093/hmg/8.1.69
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- Publication type:
- Article
Alternative splicing in the first nucleotide binding fold of CFTR.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 3, p. 231
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- Publication type:
- Article
Are polymorphisms of molecules involved in bone healing correlated to aseptic femoral and tibial shaft non-unions?
- Published in:
- Journal of Orthopaedic Research, 2011, v. 29, n. 11, p. 1724, doi. 10.1002/jor.21443
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- Publication type:
- Article