Results 31 to 40 of about 237,429 (310)

A CASE OF DELETION OF CHROMOSOME 14q23.3 [PDF]

Euromediterranean Biomedical Journal, 2012
An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient with epilepsy, mental retardation, behavioural disorders and severe impairments in social interaction and communication.
Nadia Imbrigiotta
doaj   +1 more source

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   +28 more
core   +1 more source

A Rare Case of Early-diagnosed Trisomy 13 Syndrome with Typical Semilobar Holoprosencephaly, Cyclopia, and Proboscis: A Case Report

Journal of Medical Sciences
Trisomy 13 syndrome is a lethal chromosomal disorder characterized by severe congenital anomalies. We report a case of trisomy 13 syndrome with semilobar holoprosencephaly, cyclopia, proboscis, omphalocele, and an absent nasal bone, prenatally diagnosed ...
Tzu-Rong Liu, Yi-An Kuo, Chi-Kang Lin
doaj   +1 more source

Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis

Molecular Cytogenetics, 2019
Background This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant ...
Zhengyou Miao, Xia Liu, Furong Hu, Ming Zhang, Pingli Yang, Luming Wang   +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

Genetics of autistic disorders : review and clinical implications [PDF]

, 2009
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Klauck, Sabine M., Duketis, Eftichia, Wouter Staal, Sabine M. Klauck, Christine M. Freitag, Regina Waltes, Freitag, Christine M., Staal, Wouter, Waltes, Regina, Eftichia Duketis   +9 more
core   +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

Identification of candidate genes for dyslexia susceptibility on chromosome 18 [PDF]

, 2010
Background: Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage.
Olson, R K, Pennington Bruce F., Anthony P. Monaco, Pennington, B F, Scerri, TS, Alex J. Richardson, Smith, SD, Talcott, J, Richard K. Olson, Alex J Richardson, MacPhie, I L, Joel Talcott, Bruce F Pennington, Stein, J, Monaco, AP, Morris Andrew, Pennington, BF, Olson Richard K., Silvia Paracchini, Macphie, IL, DeFries, J C, Anthony P Monaco, Thomas S Scerri, Smith, Shelley D., Richardson, Alex J., Olson, RK, I Laurence MacPhie, Stein, John, Shelley D. Smith, Pennington, Bruce F., Monaco, Anthony P., Defries, JC, Paracchini, Silvia, John Stein, Stein, John F., Scerri Thomas S., MacPhie I. Laurence, Talcott, Joel B., I. Laurence MacPhie, Richardson, Alexandra, Monaco, Anthony, Andrew Morris, John C. DeFries, Talcott Joel, Morris, Andrew, Smith, S D, Smith Shelley D., Talcott, Joel, Bruce F. Pennington, Monaco Anthony P., Olson, Richard K., MacPhie, I. Laurence, Morris, A, Richardson, AJ, Paracchini, S, DeFries, John C., DeFries John C., Shelley D Smith, Stein John, John C DeFries, Monaco, A P, Richard K Olson, Paracchini Silvia, Thomas S. Scerri, Scerri, Thomas S., Scerri, T S   +65 more
core   +2 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

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