Results 21 to 30 of about 1,534,713 (253)

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

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, U.A. Mamokhina, K.K. Danilina, D.S. Pereverzeva, K.R. Salimova, N.L. Gorbachevskaya   +5 more
doaj   +1 more source

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

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

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, Tatsuo Miyamoto, Daiju Oba, Keita Tomioka, Hiroshi Ochiai, Hirofumi Ohashi, Shinya Matsuura   +6 more
doaj   +2 more sources

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, Neusser, Michaela, de Oliveira, E. H. C.   +2 more
core   +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, Mo Kyung Jung, Ki Eun Kim, Hyun Wook Chae, Duk Hee Kim, Ah Reum Kwon, Ho-Seong Kim   +6 more
doaj   +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, Paracchini, Silvia, Monaco, AP, Anthony Monaco, Monaco, Anthony P, Paracchini, S, Dianne Newbury, Silvia Paracchini, Newbury, DF   +8 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