Results 111 to 120 of about 4,235 (189)

Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to Chromosome 5 by linkage analysis [PDF]

, 2018
Arthrogryposis multiplex congenita (AMC), defined as permanent joint contractures present at birth, is one of the most common congenital defects in piglets and other mammals.
Gebert, Stefen, Genini, Sem, Hagger, Christian, Kadarmideen, Haja, Malek, Massoud, Ménétrey, Frédéric, Neuenschwander, Stefan, Nguyen, Trung, Stranzinger, Gerald, Vögeli, Peter, Špilar, Špela   +10 more
core  

FBN2 Gene [PDF]

, 2020
openaire   +1 more source

FBN2 wt Allele [PDF]

, 2020
openaire   +1 more source

Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present application of chromosome microarray analysis (CMA) in the detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 in a second-trimester fetus with multiple congenital anomalies on fetal ultrasound.
Chih-Ping Chen, Jian-Pei Huang, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Wayseen Wang   +5 more
doaj   +1 more source

Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report

BMC Pediatrics
Background Familial exudative vitreoretinopathy (FEVR) is an inherited disorder of retinal vascularization insufficiency caused primarily by genetic mutations. So far, FEVR has been less reported in the Chinese population.
Yanan Wang, Yujie Chang, Hongtao Lei, Weiyan Yan, Yuqiong Chai, Weiwei Zang   +5 more
doaj   +1 more source

Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy.

Internal medicine (Tokyo, Japan), 2015
Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by marfanoid habitus with camptodactyly. However, cardiac features have rarely been documented in adults. We herein report a sporadic case of CCA in a 20-year-old woman who developed decompensated dilated cardiomyopathy.
Hiroki, Yagi, Masaru, Hatano, Norifumi, Takeda, Saori, Harada, Yukari, Suzuki, Yuki, Taniguchi, Yukako, Shintani, Hiroyuki, Morita, Norio, Kanamori, Takeshi, Aoyama, Masafumi, Watanabe, Ichiro, Manabe, Hiroshi, Akazawa, Koichiro, Kinugawa, Issei, Komuro   +14 more
openaire   +1 more source

Powdery mildew exploits host plastoglobuli functions via DGAT3 and FBN2 for proliferation

SUMMARYPlastoglobuli (PG) are specialized lipid-containing compartments attached to thylakoid membranes within chloroplasts. PGs participate in various metabolic pathways in response to environmental stresses such as high light, nitrogen deficiency, and heat stress. However, their roles in biotic stress remain largely unexplored.
Hang Xue, Catalina Kemmer, Emma H. Choi, Masakazu Iwai, Krishna K. Niyogi, Mary C. Wildermuth   +5 more
openaire   +1 more source

Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report [PDF]

, 2009
Zoran S Gucev, Nada Pop-Jordanova, Gordana Dumalovska, Orhideja Stomnaroska, Gorgji Zafirovski, Velibor B Tasic, Y Lacassie, JG Hall, JG Hall, DL Daentl, PA Krakowiak, AE Shrimpton, E Kimber, BD Friedman, M Bamshad, SS Sung, SS Sung, JG Hall, RM Toydemir, M Wang, RT Zori, MS Levine, DA Stevenson, RK Beals, HO Nousiainen, N Illum   +25 more
core   +1 more source

A Familial Thoracic Aortic and Arterial Aneurysm Syndrome Associated With FBN2 (Y1311C) and MYH11 (R34T) Variants: A Multigenerational Case Report. [PDF]

Cureus
Purvez A, Mir A, Bashir M.
europepmc   +1 more source

Thoracic aortic aneurysm combined with intracranial vascular abnormalities caused by dual mutations in <i>MYLK</i> and <i>FBN2</i>: a case report. [PDF]

Front Genet
Cai M, Liu Y, Liao Z, Wu Y, Jiao J.
europepmc   +1 more source