Results 31 to 40 of about 1,534,713 (253)

Global patterns in human mitochondrial DNA and Y-chromosome variation caused by spatial instability of the local cultural processes [PDF]

, 2006
Because of the widespread phenomenon of patrilocality, it is hypothesized that Y-chromosome variants tend to be more localized geographically than those of mitochondrial DNA ( mtDNA).
Reddy, B. Mohan, Vikrant Kumar, Kumarasamy Thangaraj, Naidu Vegi M, Naidu, Vegi M., Kumar, Vikrant, Singh, Lalji, Langstieh, Banrida T., Reddy B. Mohan, Banrida T Langstieh, Lalji Singh, Langstieh Banrida T, Komal V Madhavi, Biswas Silpak, Silpak Biswas, Madhavi Komal V, Singh Hardeep Pal, Hardeep Pal Singh, B Mohan Reddy, Mohan Reddy, B., Biswas, Silpak, Kumar Vikrant, Singh Lalji, Singh, Hardeep Pal, B. Mohan Reddy, Thangaraj Kumarasamy, Madhavi, Komal V., Vegi M Naidu, Thangaraj, Kumarasamy, Reddy B.M., Madhavi K.V., Singh L., Singh H.P., Thangaraj K., Kumar V., Langstieh B.T., Biswas S., Naidu V.M.   +37 more
core   +3 more sources

Oxidative Stress and Down Syndrome: A Systematic Review

Antioxidants
Down syndrome (DS), the most common human aneuploidy, is associated with oxidative stress, which contributes to morphological abnormalities, immune dysfunction, cognitive impairment and accelerated ageing.
Goran Slivšek, Sandra Mijač, Ivan Dolanc, Marija Fabijanec, Silvija Petković, Renato Mautner, Karmen Lončarek, Josip Kranjčić, Alenka Boban Blagaić, Marin Marinović, Ksenija Vitale, Donatella Verbanac, Miran Čoklo, Jadranka Vraneković   +13 more
doaj   +1 more source

Frequency of Chromosome Disorders In Patients with Sperm Number Anomaly [PDF]

Objective: Chromosome abnormalities play an important role in male infertility. The rate of chromosome disorders in infertile men is higher as 5.8% when compared to the normal population (0.5%).
Mehmet Niyaz, Egzon Abdullahı, Zerrin Yılmaz Çelik   +2 more
core   +1 more source

Multicolor chromosome bar codes [PDF]

, 2006
Chromosome bar codes are multicolor banding patterns produced by fluorescence in situ hybridization (FISH) with differentially labeled and pooled sub-regional DNA probes.
Müller, Stefan, Wienberg, Johannes
core   +1 more source

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia

Molecular Cytogenetics, 2018
Background VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have ...
Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov, Thomas Bertrand   +3 more
doaj   +1 more source

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

BMC Medical Genomics, 2021
Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders.
Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, Antonina Fontana   +5 more
doaj   +1 more source

Pragmatic disorders and their social impact [PDF]

, 2011
Pragmatic disorders in children and adults have been the focus of clinical investigations for approximately 40 years. In that time, clinicians and researchers have established a diverse range of pragmatic phenomena that are disrupted in these disorders ...
Louise Cummings, Cummings, L
core   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source

Functional and molecular effects of chromosome 21 trisomy [PDF]

, 2010
Down Syndrome (DS) is the most frequent autosomal aneuploidy that is compatible with post-natal life. The DS phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes.
Izzo, Antonella
core   +1 more source

Rare chromosome disorders and their developmental consequences [PDF]

, 2009
Professionals working in disability services often encounter clients who have chromosome disorders such as Williams, Angelman or Down syndromes. As chromosome testing becomes increasingly sophisticated, however, more people are being diagnosed with very ...
Gilmore, Linda
core