Results 21 to 30 of about 237,429 (310)
Nature Communications, 2022 Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.
Elsa Leitão +36 more
doaj +1 more source
Studies of JAK2 mutations in myeloproliferative disorders [PDF]
, 2008 Myeloproliferative disorders (MPD) are diseases characterized by clonal hematopoiesis with overprodution of mature cells from erythroid, megakaryocytic and myeloid lineages.
Li, Sai
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. +1 more
openaire +3 more sources
Chromosome-engineered mouse models [PDF]
, 2006 Chromosome rearrangements cause genomic disorders and cancer in human. Region-specific low-copy repeats (LCRs) can mediate nonallelic homologous recombination (NAHR) that results in chromosome rearrangements.
Liu, Pentao
core +1 more source
Reading and language disorders : the importance of both quantity and quality [PDF]
, 2014 Reading and language disorders are common childhood conditions that often co-occur with each other and with other neurodevelopmental impairments. There is strong evidence that disorders, such as dyslexia and Specific Language Impairment (SLI), have a ...
Newbury, Dianne F +8 more
core +1 more source
iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes
PLoS ONE, 2022 Trisomy 21, 18, and 13 are the major autosomal aneuploidy disorders in humans. They are mostly derived from chromosome non-disjunction in maternal meiosis, and the extra trisomic chromosome can cause several congenital malformations. Various genes on the
Silvia Natsuko Akutsu +6 more
doaj +2 more sources
On the mechanisms of the occurrence of autism spectrum disorders: a family case report
Аутизм и нарушение развития, 2020 Currently, more than 1000 genes described in which mutations are observed in autism spectrum disorders. Neurobiological predictors have been found to presume these abnormalities in early postnatal ontogenesis.
S.A. Tyushkevich +5 more
doaj +1 more source
XYY syndrome: a 13-year-old boy with tall stature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan ...
Won Ha Jo +6 more
doaj +1 more source
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 +13 more
doaj +1 more source
Chromosome Evolution in New World Monkeys (Platyrrhini) [PDF]
, 2012 During the last decades, New World monkey (NWM, Platyrrhini, Anthropoideae) comparative cytogenetics has shed light on many fundamental aspects of genome organisation and evolution in this fascinating, but also highly endangered group of neotropical ...
Müller, Stefan +2 more
core +1 more source