Results 31 to 40 of about 378,198 (285)

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

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

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

Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. [PDF]

, 2014
BackgroundAutism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood.
Cantor, Rita M, Geschwind, Daniel H, Lowe, Jennifer K, Luo, Rui, Werling, Donna M, Werling, Donna M   +5 more
core   +2 more sources

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 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

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 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

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

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

Neurobiology of Disease, 2010
A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders
Amber Hogart, David Wu, Janine M. LaSalle, N. Carolyn Schanen   +3 more
doaj   +1 more source