Results 81 to 90 of about 23,762 (307)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

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

Dwarfism in beef cattle

, 1954
During recent years there have been several scientific and numerous breeders' reports on dwarfism in the Angus, Hereford, and Shorthorn breeds of beef cattle.
Holland, L.A., Smith, W.H.
core  

Identifying genetic cause of Dwarfism in American Angus cattle

, 2004
Dwarfism in American Angus was a major cause of concern in the 1970’s. Until recently when several calves from some sire x dam crosses resulted in phenotypically dwarf calves not cases have been observed since then.
Cavanagh, Julie, Mishra, Bishnu, Reecy, James   +2 more
core   +1 more source

Mechanisms and pathways of growth failure in primordial dwarfism [PDF]

, 2011
The greatest difference between species is size; however, the developmental mechanisms determining organism growth remain poorly understood. Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes ...
Anna Klingseisen, Jackson, Andrew P, Andrew P. Jackson, Klingseisen, Anna   +3 more
core   +1 more source

‘We Are Australia’: Unpacking Aboriginal and Torres Strait Islander People's Understandings and Experiences of Australian Identity

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal and Torres Strait Islander people are the oldest living custodians in the world. However, Australian identity has been purposefully established to exclude Aboriginal and Torres Strait Islander people, contributing to systemic oppression and harmful consequences. Understanding the perspectives and experiences of Aboriginal and Torres
Jack Farrugia, Jonathan Bullen
wiley   +1 more source

Primordial Dwarfism: A Case Series From North East of Iran and Literature Review

Journal of Pediatrics Review, 2019
Introduction: Primordial dwarfism is a rare class of genetic disorders, characterized by intrauterine growth retardation, short stature at birth and growth deficiency that persist throughout life.
Rahim Vakili, Somayyeh Hashemian
doaj  

Total hip arthroplasty combined with subtrochanteric shortening osteotomy for Crowe type IV hip dysplasia in dwarfism: a case report

Journal of International Medical Research, 2020
Dwarfism is a condition of extreme short stature. Total hip arthroplasty (THA) in patients with dwarfism is a very demanding procedure due to their specific joint deformity and small bone size, which increases the technical difficulty of the THA ...
Mengxuan Yao, Huijie Li
doaj   +1 more source

The Genetics of Equine Dwarfism

, 2017
Dwarfism is a genetic disorder which is a condition of abnormal smaller stature in an individual of a species. This can refer to overall reduced stature, or reduced stature in specific body parts.
Röthemeier, Selena
core  

Chondrodysplasia-Like Dwarfism in the Miniature Horse

, 2013
Dwarfism is considered one of the most recognized congenital defects of animals and humans and can be hereditary or sporadic in cause and expression. There are two general morphologic categories within this vastly diverse disease.
Eberth, John E
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