Results 41 to 50 of about 1,472 (192)

Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

Human Mutation, 2002
Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS.
Prateek Gupta, E. A. Putnam, S. Carmical, I. Kaitila, B. Steinmann, A. Child, C. Danesino, K. Metcalfe, S. Berry, E. Chen, C. Delorme, M. Thong, L. Adès, D. Milewicz   +13 more
semanticscholar   +3 more sources

Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis [PDF]

Ultrasound in Obstetrics and Gynecology, 2014
M. Inbar‐Feigenberg, N. Meirowitz, D. Nanda, A. Toi, N. Okun, D. Chitayat   +5 more
semanticscholar   +2 more sources

Congenital contractural arachnodactyly Síndrome de la arcnodactilia contractural: estudio de un caso esporádico y revisión de la literatura

Iatreia, 1991
<p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The Congenital Contractural Arachnodactyly Syndrome is a heredltary disorder of connective tissue characterized by multiple congenital contractures, arachnodactyly ...
Betty Nishikuni, Amanda Mejía, José Luis Ramírez Castro   +2 more
doaj   +1 more source

A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. [PDF]

Am J Hum Genet, 1997
Maslen C, Babcock D, Raghunath M, Steinmann B.   +3 more
europepmc   +2 more sources

Marfan-like features and congenital contractural arachnodactyly

The Journal of Pediatrics, 1982
Peter Meinecke
openaire   +2 more sources

Transient Cardiomyopathy in a Patient with Congenital Contractural Arachnodactyly (Beals Syndrome)

Journal of Nippon Medical School, 2006
Tae Matsumoto, Atsushi Watanabe, Makoto Migita, Yoshihiro Gocho, Jun Hayakawa, Shunichi Ogawa, Takashi Shimada, Yoshitaka Fukunaga   +7 more
openalex   +4 more sources

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report. [PDF]

Case Rep Dent
Background Oral–Facial–Digital Syndrome Type 1 (OFD1) is a genetic disorder marked by diverse malformations of the oral cavity, face, and digits. Case This case report presents a female patient who was first referred to the Department of Pedodontics at Istanbul University at 18 months of age due to the absence of teeth in the upper molar region and who
Saygili S, Kasimoglu Y.
europepmc   +2 more sources

Congenital contractural arachnodactyly

, 2009
Yuranga Weerakkody, Daniel Bell, Tom Foster   +2 more
openaire   +2 more sources

A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer

IET Systems Biology, Volume 17, Issue 4, Page 162-173, August 2023., 2023
We systematically investigated the effects and mechanisms of FBN2 on BLCA and provided a new understanding of the role of FBN2 as a risk factor and TME influencer in BLCA. Abstract Bladder cancer (BLCA) is a common and difficult‐to‐manage disease worldwide. Most common type of BLCA is urothelial carcinoma (UC).
Zechao Lu, Zeguang Lu, Yongchang Lai, Haobin Zhou, Zhibiao Li, Wanyan Cai, Zeyao Xu, Hongcheng Luo, Yushu Chen, Jianyu Li, Jishen Zhang, Zhaohui He, Fucai Tang   +12 more
wiley   +1 more source

Role of fibrilins in human cancer: A narrative review

Health Science Reports, Volume 6, Issue 7, July 2023., 2023
Abstract Background Fibrillin is one of the extracellular matrix glycoproteins and participates in forming microfibrils found in many connective tissues. The microfibrils enable the elasticity and stretching properties of the ligaments and support connective tissues.
Mahsa Mahdizadehi, Marie Saghaeian Jazi, Seyyed Mostafa Mir, Seyyed Mehdi Jafari   +3 more
wiley   +1 more source