Results 41 to 50 of about 40,082 (242)

Mutation screening of α-crystallin mutations in congenital cataract patients

Delhi Journal of Ophthalmology, 2011
Purpose: To screen α-crystallin (CRYAA) gene in congenital cataract patients and controls. Methods: Fifty clinically diagnosed congenital cataract cases below 3 years of age from northern India, presenting at Dr. R. P.
Manoj Kumar, Rima Dada, Tushar Agarwal, Sudarshan Khokhar   +3 more
doaj   +1 more source

Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene

Orphanet Journal of Rare Diseases, 2023
Background Congenital cataract is a leading cause of treatable childhood blindness and both clinically and genetically heterogeneous. Among the already characterized phenotypes, coralliform cataract is a rare special form of congenital cataracts ...
Kai-Jie Wang, Jue-Xue Wang, Jin-Da Wang, Meng Li, Jing-Shang Zhang, Ying-Yan Mao, Xiu-Hua Wan   +6 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Genetic analysis for two italian siblings with usher syndrome and schizophrenia. [PDF]

, 2012
Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia.
Article Id, Daniela Domanico, Enzo Maria Vingolo, Marcella Nebbioso, Paolo Trabucco, Serena Fragiotta   +5 more
core   +3 more sources

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Türk Oftalmoloji Dergisi, 2021
Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. It can be diagnosed at birth or during the first year of life. Early diagnosis and treatment are crucial for the visual prognosis.
Hande Taylan Şekeroğlu, Gülen Eda Utine   +1 more
doaj   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Global prevalence of childhood cataract: a systematic review [PDF]

, 2016
Childhood cataract is an avoidable cause of visual disability worldwide and is a priority for VISION 2020: The Right to Sight. There is a paucity of information about the burden of cataract in children and the aim of this review is to assess the global ...
A Foster, A Medsinge, A R Fielder, A Sommer, AB Kello, AT Cama, B Haargaard, B Thylefors, B Xiao, BC Wallace, BS Demissie, C Gilbert, C Gilbert, C M Suttle, C Stoll, CE Gilbert, E Bermejo, EE Birch, F Sengpiel, H Limburg, J G Lawrenson, JE Forster, JM Holmes, JM Luteijn, JP Higgins, JP Higgins, JP SanGiovanni, JS Rahi, JS Rahi, KM Waddell, L Dandona, L Pizzarello, L-H Pi, LH Li, M Abrahamsson, M Gralek, MA Muhit, MA Muhit, ME Wilson, MG Wirth, NS Anstice, P Fu, PK Nirmalan, Q Lu, R Duke, S Dorairaj, S Sheeladevi, S Shirima, SL Stewart-Brown, SR Lambert, Z Munn   +50 more
core   +1 more source

Congenital hereditary cataracts

The International Journal of Developmental Biology, 2004
Congenital cataracts are rare and occur in developed countries with a frequency of 30 cases among 100,000 births with a further 10 cases being diagnosed during childhood. They reflect mainly genetically caused developmental alterations in the lens and surrounding ocular tissues.
openaire   +3 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source