Found: 31
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New mutations in the ATM gene and clinical data of 25 AT patients.
- Published in:
- Neurogenetics, 2011, v. 12, n. 4, p. 273, doi. 10.1007/s10048-011-0299-0
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- Article
MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II.
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- Journal of Cell Biology, 2011, v. 194, n. 6, p. 841, doi. 10.1083/jcb.201106141
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- Article
Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1.
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- Journal of Cell Biology, 2009, v. 185, n. 7, p. 1149, doi. 10.1083/jcb.200810159
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- Article
Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.
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- Carcinogenesis, 2007, v. 28, n. 1, p. 107, doi. 10.1093/carcin/bgl126
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- Article
PUL21a-Cyclin A2 Interaction is Required to Protect Human Cytomegalovirus-Infected Cells from the Deleterious Consequences of Mitotic Entry.
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- PLoS Pathogens, 2014, v. 10, n. 11, p. 1, doi. 10.1371/journal.ppat.1004514
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- Article
Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population.
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- Prenatal Diagnosis, 2015, v. 35, n. 1, p. 81, doi. 10.1002/pd.4487
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- Article
Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications.
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- Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/349837
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- Article
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
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- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 539, doi. 10.1038/ejhg.2009.211
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- Article
High-throughput sequencing of microdissected chromosomal regions.
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- European Journal of Human Genetics, 2010, v. 18, n. 4, p. 457, doi. 10.1038/ejhg.2009.196
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- Publication type:
- Article
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
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- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 291, doi. 10.1038/ejhg.2009.163
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- Article
Genomic Aberrations and Survival in Cutaneous T Cell Lymphomas.
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- Journal of Investigative Dermatology, 2004, v. 122, n. 3, p. 579, doi. 10.1111/j.0022-202X.2004.22301.x
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- Article
Establishment and Characterization of an Immortalized Human Sebaceous Gland Cell Line (SZ95)<sup>1</sup>.
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- Journal of Investigative Dermatology, 1999, v. 113, n. 6, p. 1011, doi. 10.1046/j.1523-1747.1999.00771.x
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- Article
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
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- Nature Genetics, 2007, v. 39, n. 2, p. 162, doi. 10.1038/ng1947
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- Article
Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.
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- Prenatal Diagnosis, 2006, v. 26, n. 3, p. 273, doi. 10.1002/pd.1396
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- Publication type:
- Article
A Novel MCPH1 Isoform Complements the Defective Chromosome Condensation of Human MCPH1-Deficient Cells.
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- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0040387
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- Article
A two-dimensional electrophoretic map of human mitochondrial proteins from immortalized lymphoblastoid cell lines: A prerequisite to study mitochondrial disorders in patients.
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- Proteomics, 2005, v. 5, n. 11, p. 2981, doi. 10.1002/pmic.200401191
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- Article
Arrest of human oocytes during meiosis I in two sisters of consanguineous parents: first evidence for an autosomal recessive trait in human infertility: Case report.
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- 2002
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- Publication type:
- journal article
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
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- Human Genetics, 2022, v. 141, n. 11, p. 1785, doi. 10.1007/s00439-022-02461-w
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- Article
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling.
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- Nature Cell Biology, 2006, v. 8, n. 7, p. 725, doi. 10.1038/ncb1431
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- Article
Population monitoring of trisomy 21: problems and approaches.
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- Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00637-1
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- Publication type:
- Article
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
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- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 5, doi. 10.1186/1750-1172-2-5
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- Article
A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.
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- 2003
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- Publication type:
- journal article
Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
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- European Journal of Pediatrics, 2001, v. 160, n. 9, p. 561
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- Publication type:
- Article
Two siblings with immunodeficiency, facialabnormalities and chromosomal instabilitywithout mutation in DNMT3B gene but liabilitytowards malignancy; a new chromatin disorderdelineation?
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 5, doi. 10.1186/1755-8166-3-5
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- Publication type:
- Article
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.
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- Human Mutation, 2005, v. 26, n. 5, p. 496, doi. 10.1002/humu.9382
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- Publication type:
- Article
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0364-6
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- Publication type:
- Article
Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident.
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- Genetic Epidemiology, 2012, v. 36, n. 1, p. 48, doi. 10.1002/gepi.20662
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- Article
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
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- Human Mutation, 2010, v. 31, n. 9, p. 1059, doi. 10.1002/humu.21315
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- Publication type:
- Article
Preparation of Nucleoside-LDL-Conjugates for the Study of Cell-Selective Internalization: Stability Characteristics and Receptor Affinity.
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- Clinical Chemistry & Laboratory Medicine, 1991, v. 29, n. 10, p. 665
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- Article
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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- Annals of Neurology, 2003, v. 54, n. 6, p. 719
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- Article
5-Methylcytosine-Rich Heterochromatin in the Indian Muntjac.
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- Cytogenetic & Genome Research, 2016, v. 147, n. 4, p. 240, doi. 10.1159/000444431
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- Article