Results 201 to 210 of about 6,343 (253)

Targeting Immunologic Pathways in Eosinophilic Granulomatosis With Polyangiitis: Translating Emerging Evidence Into Clinical Practice

Allergy, EarlyView.
ABSTRACT Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare and potentially life‐threatening systemic, inflammatory disease with multi‐organ manifestations, variable presentation and complex pathology. Multiple interconnected immunological pathways are implicated in EGPA pathology, including a type‐2 immune response driving predominantly ...
Harold Wilson‐Morkeh, Lior Seluk, Philipp Bosch, Carolina Aguiar, Jens Thiel, Bernhard Hellmich, Michael E. Wechsler, Salman Siddiqui   +7 more
wiley   +1 more source

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Consanguinity.

Bulletin of the World Health Organization, 2010
openaire   +1 more source

Organ Donation: Consanguinity vs Universality -- an Analysis of Indian Law

, 1996
Kishore, R. R.
core  

Consanguinity sans reproche

Human Genetics, 1991
In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an ...
Ten Kate, Leo P., Scheffer, Hans, Cornel, Martina C., van Lookeren Campagne, Joan G.   +3 more
openaire   +4 more sources

Consanguinity and the risk of congenital heart disease

American Journal of Medical Genetics, Part A, 2012
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is
Joseph T Shieh, A H Bittles, Louanne Hudgins   +2 more
exaly   +2 more sources

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Consanguinity and Autism

Current Psychiatry Reports, 2020
Consanguinity can increase the risk for autosomal recessive conditions, along with autism spectrum disorder (ASD). Rarely outside of the genetics community is this discussed. Understanding its impact on the development of ASD and increasing awareness for physicians is important.ASD is a polygenic multifactorial disorder associated with morbidity and ...
Nikita, Roy, Mohammad, Ghaziuddin, Sarah, Mohiuddin   +2 more
openaire   +2 more sources

Consanguinity in Ireland

Human Heredity, 1970
Ecclesiastical dispensations from the impediment of consanguinity were studied in relation to 190,557 marriages between two Catholics in all Ireland for the ten-year period 1959–1968.
openaire   +2 more sources

CONSANGUINEOUS MARRIAGES IN AFGHANISTAN

Journal of Biosocial Science, 2011
SummaryThe present cross-sectional study was done in order to illustrate the prevalence and types of consanguineous marriages among Afghanistan populations. Data on types of marriages were collected using a simple questionnaire. The total number of couples in the study was 7140 from the following provinces: Badakhshan, Baghlan, Balkh, Bamyan, Kabul ...
Khyber, Saify, Mostafa, Saadat
openaire   +2 more sources