Results 31 to 40 of about 3,861,183 (367)

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Frontiers in Cell and Developmental Biology, 2023
Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases.
Laura Pignata, Francesco Cecere, Fabio Acquaviva, Emilia D’Angelo, Daniela Cioffi, Valeria Pellino, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Angela Sparago, Daniele De Brasi, Flavia Cerrato, Andrea Riccio, Andrea Riccio   +13 more
doaj   +1 more source

Disorders caused by chromosome abnormalities

The Application of Clinical Genetics, 2010
Many human genetic disorders result from unbalanced chromosome abnormalities, in which there is a net gain or loss of genetic material. Such imbalances often disrupt large numbers of dosage-sensitive, developmentally important genes and result in specific and complex phenotypes.
Aaron Theisen, Lisa G. Shaffer
openaire   +5 more sources

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

Catastrophic chromosomal restructuring during genome elimination in plants. [PDF]

, 2015
Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered.
Bradnam, Keith R, Chan, Simon Wl, Comai, Luca, Henry, Isabelle M, Korf, Ian, Lysak, Martin A, Mandakova, Terezie, Marimuthu, Mohan Pa, Ravi, Maruthachalam, Tan, Ek Han   +9 more
core   +1 more source

Chromosomal disorders and male infertility [PDF]

Asian Journal of Andrology, 2011
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified.
Harton, Gary L., Tempest, Helen G., Ph.D.   +1 more
openaire   +4 more sources

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency [PDF]

, 2004
Although most components of the mitochondrial translation apparatus are encoded by nuclear genes, all known molecular defects associated with impaired mitochondrial translation are due to mutations in mitochondrial DNA.
Antonicka, H, Coenen, MJH, Heister, A, Newbold, RF, Rossi, R, Sasarman, F, Shoubridge, EA, Smeitink, JAM, Trijbels, FJMF, Ugalde, C, van den Heuvel, LP   +10 more
core   +9 more sources

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

A brief history of research on the genetics of alcohol and other drug use disorders. [PDF]

, 2014
ObjectiveThis article reviews developments in research on genetic influences on alcohol and other drug use and disorders over the past 7 decades.MethodThe author began with a review of the flow and content of articles published in the three iterations of
Schuckit, Marc A
core   +2 more sources

Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. [PDF]

, 2011
Because of the high costs associated with ascertainment of families, most linkage studies of Bipolar I disorder (BPI) have used relatively small samples. Moreover, the genetic information content reported in most studies has been less than 0.6.
A Kong, A MacLean, A Serretti, AE Baum, AJ Jasinska, AL Price, BK Suarez, BL Browning, C-Y Liu, D Blackwood, D Grozeva, D Grozeva, D Koller, D Lambert, D Morris, D Sadovnick, D Zhang, DH Blackwood, DL Pauls, E Green, E Green, E S Gershon, EM Wijsman, EN Smith, ER Hauser, ET Cirulli, F J McMahon, F Mathieu, G J Lyon, G Kirov, GR Abecasis, H Coon, H Edenberg, HJ Edenberg, HM Ollila, I Jones, J A Badner, J B Potash, J Fan, J I Nurnberger, J Kelsoe, J Ross, JI Nurnberger, JM Ekholm, JPA Ioannidis, JR Kelsoe, JR O’Connell, KA Frazer, KR Merikangas, KY Liang, L Jones, LJ Adams, LJ Scott, M Ayub, M Gill, M Hamshere, MA Spence, MAR Ferreira, MB McQueen, MS McPeek, N Craddock, P Keck, P P Zandi, P Sklar, PP Zandi, R Remick, R Robinson, R Segurado, S Macgregor, S Purcell, SA Bacanu, T Foroud, T Venken, TC Matise, V L Willour, W Byerley, W McMahon, WH Berrettini, WTCC Consortium   +78 more
core   +3 more sources

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