Partial Deletion Of Y
Last Posted: Sep 24, 2019
- Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi Futoshi, et al. Journal of human genetics 2019 9
- Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.
Gambale Antonella, et al. Clinical genetics 2019 7
- Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.
Nagy Orsolya, et al. Journal of biotechnology 2019 5
- Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure.
Shen Ying, et al. Biology of reproduction 2017 2
- Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia.
Alimardanian L, et al. Andrologia 2016 11 (9) 890-894
- Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment.
Lu Chuncheng, et al. Molecular human reproduction 2014 9 (9) 836-43
- Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination.
Yang Bo, et al. Scientific reports 2015 0 10551
- Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.
Pasmant E, et al. Neuro-Chirurgie 2015 6
- Genetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population.
Ambulkar Prafulla S, et al. Journal of clinical and diagnostic research : JCDR 2014 3 (3) 88-91
- Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation.
Martis S, et al. The pharmacogenomics journal 2013 12 (6) 558-66
- Impaired spermatogenesis and gr/gr deletions related to Y chromosome haplogroups in Korean men.
Choi Jin, et al. PloS one 2012 0 (8) e43550
- Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.
Van Den Bossche Maarten J, et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012 6 (4) 465-75
- Association of KIR2DS4 and its variant KIR1D with syphilis in a Chinese Han population.
Zhuang Y-L, et al. International journal of immunogenetics 2012 4 (2) 114-8
- Partial deletion of Y
From NCATS Genetic and Rare Diseases Information Center
- Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Depienne Christel, et al. Human mutation 2011 1 (1) E1959-75
- Mutations in SOHLH1 gene associate with nonobstructive azoospermia.
Choi Youngsok, et al. Human mutation 2010 7 (7) 788-93
- Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.
Cañueto J, et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2010 10 (10) 1226-9
- Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Nemos C, et al. Clinical genetics 2009 10 (4) 357-71
- Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.
Bergman Jorieke E H, et al. European journal of medical genetics 0 0 (5) 417-25
- Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber Pascale, et al. Human mutation 2007 11 (11) 1098-107
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