نتایج جستجو برای: hemimelia

تعداد نتایج: 143  

2017
Lynsey K. Whitacre Jesse L. Hoff Robert D. Schnabel Sara Albarella Francesca Ciotola Vincenzo Peretti Francesco Strozzi Chiara Ferrandi Luigi Ramunno Tad S. Sonstegard John L. Williams Jeremy F. Taylor Jared E. Decker

Recent strong selection for dairy traits in water buffalo has been associated with higher levels of inbreeding, leading to an increase in the prevalence of genetic diseases such as transverse hemimelia (TH), a congenital developmental abnormality characterized by absence of a variable distal portion of the hindlimbs. Limited genomic resources available for water buffalo required an original app...

Journal: :American journal of human genetics 2014
Joshua D Smith Anne V Hing Christine M Clarke Nathan M Johnson Francisco A Perez Sarah S Park Jeremy A Horst Brig Mecham Lisa Maves Deborah A Nickerson Michael L Cunningham

Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability. Exome sequencing of one trio and two unrelated probands revealed the same heterozygous variant ...

Journal: :The Journal of Experimental Medicine 1985
D M Lopez R J Pauley B B Lozzio

The BALB/c mouse strain has been shown to contain endogenous mouse mammary tumor virus (MMTV) proviral sequences. However, no exogenous MMTV particles have been detected in their tissues. Female BALB/c mice from our colonies exhibit a very low incidence of spontaneous mammary tumors (SMT); less than 1% at up to 20 mo of age. Immunodeficient BALB/c mice heterozygous for the nude gene (nu/+, +/+)...

Journal: :Development 2004
Jacob Hecksher-Sørensen Robert P Watson Laura A Lettice Palle Serup Lorraine Eley Carlo De Angelis Ulf Ahlgren Robert E Hill

The mechanism by which left-right (LR) information is interpreted by organ primordia during asymmetric morphogenesis is largely unknown. We show that spleen and pancreatic laterality is dependent on a specialised, columnar mesodermal-derived cell layer referred to here as the splanchnic mesodermal plate (SMP). At early embryonic stages, the SMP is bilateral, surrounding the midline-located stom...

Journal: :Cancer research 1979
B B Lozzio D M Lopez P Coulson S V Lair

A colony of mice suffering from dominant hemimelia associated with agenesis of the spleen has been developed and characterized during the past 7 years. The hereditarily asplenic (Dh/+) mice have a very low incidence (9%) of spontaneous mammary tumors (SMT). Asplenic (Dh/+) females were mated with mice homozygous (nu/nu) for hereditary athymia (nude) having a BALB/c background. BALB/c females he...

2017
Sara Albarella Francesca Ciotola Emanuele D’Anza Angelo Coletta Luigi Zicarelli Vincenzo Peretti

The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability ...

ژورنال: :پژوهش های بالینی دامپزشکی 0
حمید رضا فتاحیان روزبه مرید پور حمید محی الدین علیرضا حسین زاده فاطمه سعدی نام

یک قلاده توله سگ نر از نژاد شارپی، 2 ماهه با وزن 4 کیلو گرم با علائم لنگش و بدشکلی اندام قدامی چپ،کوتاهی،انحراف داخلی و عدم وزن گیری پس از تولد به درمانگاه خصوصی دامهای کوچک ارجاع داده شد.پس از اخذ تاریخچه مشخص گردید بیمار تحت ضربه قرار نگرفته است و از نقطه نظر معاینات درمانگاهی دچار بیماریهای عمومی نبوده است. در مطالعه تصویر برداری در نامی قدامی-خلفی و جانبی-میانی عدم تشکیل مادرزادی ئندزبرین ر...

Journal: :Journal of obstetrics and gynaecology of India 2011
S B Nair G Mukundan R Thomas K K Gopinathan

Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers. It may involve one or more digits or the full hand and even par...

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