Results 31 to 40 of about 379,249 (335)

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

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

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
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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

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

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

BMC Medical Genomics, 2021
Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders.
Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, Antonina Fontana   +5 more
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Down syndrome-recent progress and future prospects [PDF]

, 2009
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia.
Adams, Adayev, Ahn, Ait Yahya-Graison, Altafaj, Antonarakis, Arron, Aylward, Aylward, Bartel, Belichenko, Bercovich, Best, Bliss, Brault, Canfield, Canzonetta, Carothers, Clark, Contestabile, Costa, de Graaf, De Vita, Denoeud, Dowjat, Draheim, E. M.C. Fisher, Ermak, Ermak, F. K. Wiseman, Fernandez, Freeman, Fuentes, Gerstein, Glasson, Granholm, Granholm, Groet, Guidi, Gwack, Harashima, Hasle, Hassold, Hill, Holland, Holtzman, Holtzman, Hunter, Hunter, Izraeli, Janicki, Johannsen, K. A. Alford, Kiyoi, Klusmann, Kuhn, Lai, Lee, Liang, Loos, Lorenzi, Mart  nez de Lagr  n, Maslen, Meng, Moore, Morice, Morris, Morrison, Murthy, Necchi, Nistor, O'Doherty, O'Donovan, O'Nuallain, Olson, Park, Pearlson, Prandini, Richtsmeier, Ryoo, Sato, Seo, Sethupathy, Stefansson, Sultan, Sussan, Toso, Tybulewicz, V. L.J. Tybulewicz, Wahab, Walters, Wechsler, Wegiel, Weis, Williams, Woods, Yang   +96 more
core   +2 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
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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
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The Relationship between Skewed X-chromosome Inactivation and Neurological Disorders Development

International Clinical Neuroscience Journal, 2016
X-chromosome inactivation (XCI) is a process by which one of the copies of the X chromosome in mammalian female cells is inactivated. The XCI causes a balanced X-linked gene quantity between male and females; moreover, it results mosaic females which ...
Mahdi Taherian, Hossein Maghsoudi, Kazem Bidaki, Reza Taherian   +3 more
doaj   +1 more source