Found: 22
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A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
- Published in:
- 2007
- By:
- Publication type:
- journal 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.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
- Published in:
- European Journal of Pediatrics, 2001, v. 160, n. 9, p. 561
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- Publication type:
- Article
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
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2453, doi. 10.1111/j.1528-1167.2010.02712.x
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- Publication type:
- Article
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 9, p. 1870, doi. 10.1111/j.1528-1167.2010.02555.x
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- Publication type:
- Article
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 1021, doi. 10.1038/ng.677
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- Publication type:
- Article
Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1274, doi. 10.1038/sj.ejhg.5201696
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- Publication type:
- Article
Newborn screening in Germany.
- Published in:
- 2022
- By:
- Publication type:
- Editorial
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
- Published in:
- JAMA Neurology, 2017, v. 74, n. 7, p. 806, doi. 10.1001/jamaneurol.2017.0666
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- Publication type:
- Article
Association of genomic imbalances with drug resistance and thermoresistance in human gastric carcinoma cells.
- Published in:
- International Journal of Cancer, 2003, v. 103, n. 6, p. 752, doi. 10.1002/ijc.10905
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- Publication type:
- Article
Genomic Aberrations and Survival in Cutaneous T Cell Lymphomas.
- Published in:
- Journal of Investigative Dermatology, 2004, v. 122, n. 3, p. 579, doi. 10.1111/j.0022-202X.2004.22301.x
- By:
- Publication type:
- Article
Two siblings with immunodeficiency, facialabnormalities and chromosomal instabilitywithout mutation in DNMT3B gene but liabilitytowards malignancy; a new chromatin disorderdelineation?
- Published in:
- Molecular Cytogenetics (17558166), 2010, v. 3, p. 5, doi. 10.1186/1755-8166-3-5
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- Publication type:
- Article
High resolution ArrayCGH and expression profiling identifies PTPRD and PCDH17/PCH68 as tumor suppressor gene candidates in laryngeal squamous cell carcinoma.
- Published in:
- Genes, Chromosomes & Cancer, 2011, v. 50, n. 3, p. 154, doi. 10.1002/gcc.20840
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- Publication type:
- Article
Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/ BRCA2 disruption.
- Published in:
- Genes, Chromosomes & Cancer, 2007, v. 46, n. 4, p. 359, doi. 10.1002/gcc.20417
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- Publication type:
- Article
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study.
- Published in:
- Movement Disorders, 2022, v. 37, n. 12, p. 2427, doi. 10.1002/mds.29221
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- Publication type:
- Article
Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 5, p. 475, doi. 10.1002/pd.1703
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- Publication type:
- Article
Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 3, p. 273, doi. 10.1002/pd.1396
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- Publication type:
- Article
Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1322, doi. 10.1002/humu.22370
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- Publication type:
- Article
Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.
- Published in:
- Movement Disorders, 2010, v. 25, n. 11, p. 1577, doi. 10.1002/mds.22857
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- Publication type:
- Article
Humangenetische Beratung in Deutschland: Entwicklung der Inanspruchnahme.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2020, v. 63, n. 9, p. 1161, doi. 10.1007/s00103-020-03206-8
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- Publication type:
- Article