Found: 40
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Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
- Published in:
- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 5, doi. 10.1186/1750-1172-2-5
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- Publication type:
- Article
The NBN founder mutation—Evidence for a country specific difference in age at cancer manifestation.
- Published in:
- Cancer Reports, 2023, v. 6, n. 2, p. 1, doi. 10.1002/cnr2.1700
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- Publication type:
- Article
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
- Published in:
- Human Genetics, 2022, v. 141, n. 11, p. 1785, doi. 10.1007/s00439-022-02461-w
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- Publication type:
- Article
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
- Published in:
- Nature Genetics, 2003, v. 35, n. 2, p. 185, doi. 10.1038/ng1243
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- Publication type:
- Article
'Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)'.
- Published in:
- 2004
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- Publication type:
- Case Study
Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1).
- Published in:
- Developmental Medicine & Child Neurology, 2004, v. 46, n. 8, p. 576, doi. 10.1017/S0012162204000970
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- Publication type:
- Article
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
- Published in:
- Journal of Molecular Medicine, 2009, v. 87, n. 1, p. 31, doi. 10.1007/s00109-008-0402-7
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- Publication type:
- Article
Exclusion of the C/D box snoRNA gene clusterHBII-52from a major role in Prader-Willi syndrome.
- Published in:
- Human Genetics, 2005, v. 116, n. 3, p. 228, doi. 10.1007/s00439-004-1219-2
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- Publication type:
- Article
Genomic rearrangements at theIGHMBP2gene locus in two patients with SMARD1.
- Published in:
- Human Genetics, 2004, v. 115, n. 4, p. 319, doi. 10.1007/s00439-004-1156-0
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- Publication type:
- Article
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.
- Published in:
- Human Genetics, 2004, v. 114, n. 6, p. 553, doi. 10.1007/s00439-004-1104-z
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- Publication type:
- Article
Cancer Risk of Heterozygotes With the NBN Founder Mutation.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2007, v. 99, n. 24, p. 1875, doi. 10.1093/jnci/djm251
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- Publication type:
- Article
Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 6, p. 752, doi. 10.1038/sj.ejhg.5201602
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- Publication type:
- Article
Chromosome instability and nibrin protein variants in NBS heterozygotes.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 4, p. 297, doi. 10.1038/sj.ejhg.5200962
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- Publication type:
- Article
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 900, doi. 10.1038/sj.ejhg.5200554
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- Publication type:
- Article
Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk.
- Published in:
- Breast Cancer Research & Treatment, 2011, v. 127, n. 2, p. 549, doi. 10.1007/s10549-010-1244-x
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- Publication type:
- Article
A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk.
- Published in:
- Breast Cancer Research & Treatment, 2010, v. 121, n. 3, p. 693, doi. 10.1007/s10549-009-0633-5
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- Publication type:
- Article
A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women.
- Published in:
- Carcinogenesis, 2009, v. 30, n. 1, p. 59, doi. 10.1093/carcin/bgn253
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- Publication type:
- Article
Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.
- Published in:
- Carcinogenesis, 2007, v. 28, n. 1, p. 107, doi. 10.1093/carcin/bgl126
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- Publication type:
- Article
Nijmegen Breakage Syndrome mutations and risk of breast cancer.
- Published in:
- International Journal of Cancer, 2008, v. 122, n. 4, p. 802, doi. 10.1002/ijc.23168
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- Publication type:
- Article
Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation.
- Published in:
- International Journal of Cancer, 2006, v. 119, n. 12, p. 2970, doi. 10.1002/ijc.22280
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- Publication type:
- Article
Increased cancer risk of heterozygotes with NBS1 germline mutations in poland.
- Published in:
- International Journal of Cancer, 2004, v. 111, n. 1, p. 67, doi. 10.1002/ijc.20239
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- Publication type:
- Article
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
- Published in:
- Annals of Neurology, 2003, v. 54, n. 6, p. 719
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- Publication type:
- Article
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
- Published in:
- 2019
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- Publication type:
- journal article
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2585, doi. 10.1093/hmg/ddr158
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- Publication type:
- Article
Association of death receptor 4 variant (683A>C) with ovarian cancer risk in BRCA1 mutation carriers.
- Published in:
- International Journal of Cancer, 2012, v. 130, n. 6, p. 1314, doi. 10.1002/ijc.26134
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- Publication type:
- Article
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167984
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- Publication type:
- Article
Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1).
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 2, p. 199, doi. 10.1177/0883073807310989
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- Publication type:
- Article
Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 3, p. 1, doi. 10.1371/journal.pgen.1000874
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- Publication type:
- Article
Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 2, p. 111, doi. 10.1002/pd.803
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- Publication type:
- Article
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. 1059, doi. 10.1002/humu.21315
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- Publication type:
- Article
Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 60, doi. 10.1002/humu.21134
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- Publication type:
- Article
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
- Published in:
- Human Mutation, 2007, v. 28, n. 8, p. 808, doi. 10.1002/humu.20525
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- Publication type:
- Article
Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 5, p. 679, doi. 10.1093/hmg/ddi482
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- Publication type:
- Article
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3127, doi. 10.1093/hmg/ddh335
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- Publication type:
- Article
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2385, doi. 10.1093/hmg/ddh278
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- Publication type:
- Article
Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0207315
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- Publication type:
- Article
A 17-year-old adolescent with anorexia and gait abnormalities Camurati-Engelmann Syndrome.
- Published in:
- Acta Paediatrica, 2012, v. 101, n. 9, p. e387, doi. 10.1111/j.1651-2227.2012.02749.x
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- Publication type:
- Article
Hepatoblastoma in a 4-year-old girl with Fanconi anaemia.
- Published in:
- Acta Paediatrica, 2011, v. 100, n. 5, p. 780, doi. 10.1111/j.1651-2227.2010.02116.x
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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
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1463
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- Publication type:
- Article