Results 171 to 180 of about 4,235 (189)

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX [PDF]

European Journal of Medical Genetics, 2014
Pierre Robin sequence (PRS) is an aetiologically distinct subgroup of cleft palate. We aimed to define the critical genomic interval from five different 5q22-5q31 deletions associated with PRS or PRS-associated features and assess each gene within the region as a candidate for the PRS component of the phenotype.
Isabel Hanson, Felicity Mehendale, Jeanne Amiel   +2 more
exaly   +6 more sources

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration [PDF]

Human Molecular Genetics, 2014
Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD).
Rinki Ratnapriya, Robert N Fariss, Yuri V Sergeev   +2 more
exaly   +5 more sources

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Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

Journal of Pediatric Genetics, 2015
Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis.
Virendra, Mehar, Dinesh, Yadav, Ravindra, Kumar, Summi, Yadav, Kuldeep, Singh, Bert, Callewaert, Shahnawaz, Pathan, Anne, De Paepe, Paul J, Coucke   +8 more
openaire   +3 more sources

Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

American journal of human genetics, 1997
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically related to the Marfan syndrome. CCA has recently been shown to result from mutations in the FBN2 gene, which encodes an elastin-associated microfibrillar protein called fibrillin-2. Two siblings are reported here with classic manifestations of CCA with
Putnam, E. A., Park, E. S., Aalfs, C. M., Hennekam, R. C., Milewicz, D. M.   +4 more
openaire   +2 more sources

FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly

American Journal of Medical Genetics Part A, 2007
AbstractFBN2, FBN1, TGFBR1, and TGFBR2 were analyzed by direct sequencing in 15 probands with suspected congenital contractural arachnodactyly (CCA). A total of four novel FBN2 mutations were found in four probands (27%, 4/15), but remaining the 11 did not show any abnormality in either of the genes.
Akira, Nishimura, Haruya, Sakai, Shiro, Ikegawa, Hiroshi, Kitoh, Nobuyuki, Haga, Satoshi, Ishikiriyama, Toshiro, Nagai, Fumio, Takada, Takako, Ohata, Fumihiko, Tanaka, Hotaka, Kamasaki, Hirotomo, Saitsu, Takeshi, Mizuguchi, Naomichi, Matsumoto   +13 more
openaire   +2 more sources

Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes

European Journal of Medical Genetics, 2020
A phenotype of an individual is resulted from an interaction among variants in several genes. Advanced molecular technologies allow us to identify more patients with mutations in more than one genes. Here, we studied a Thai woman with combined clinical features of Marfan (MFS) and Beals (BS) syndromes including frontal bossing, enophthalmos, myopia ...
Chureerat, Phokaew, Rekwan, Sittiwangkul, Kanya, Suphapeetiporn, Vorasuk, Shotelersuk   +3 more
openaire   +2 more sources

Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus

European Journal of Medical Genetics, 2018
We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on exome sequencing.
Shagun Aggarwal, Aneek Das Bhowmik, Ashwani Tandon, Ashwin Dalal   +3 more
openaire   +2 more sources

Thoracic Aortic Disease in Patients with Heterozygous Variants in FBN2

The Thoracic and Cardiovascular Surgeon, 2022
T. J. Demal, M. Sachse, H. Schüler, H. Reichenspurner, M. Kutsche, K. Szöcs, V. Stark, J. Olfe, M. Rybczynski, S. Renner, K. Kutsche, C. Kubisch, T. S. Mir, Y. Von Kodolitsch, C. Detter, G. Rosenberger   +15 more
openaire   +1 more source

[Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
To detect pathological variant in a Chinese pedigree affected with congenital contractural arachnodactyly (CCA).Next generation sequencing (NGS) was used to scan the whole exome of the proband. Potential variant of the FBN2 gene was also detected in all members of the pedigree and 100 healthy controls by Sanger sequencing. With the determination of the
Jieqiong, Wang, Yanjie, Xia, Yanan, Wang, Fan, Yang, Xiangdong, Kong   +4 more
openaire   +1 more source

Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2

Circulation: Genomic and Precision Medicine
BACKGROUND: Heterozygous pathogenic variants in the central region (exon 23–34) of FBN2 cause a hereditary connective tissue disorder named congenital contractural arachnodactyly, which presents with obligatory skeletal features but rarely with vascular manifestations.
Till Joscha Demal, Marco Sachse, Celia Metzlaff, Helke Schüler, Katalin Szöcs, Jakob Olfe, Veronika Stark, Peter Frommolt, Yskert von Kodolitsch, Thomas S. Mir, Meike Rybczynski, Hermann Reichenspurner, Kerstin Kutsche, Christian Kubisch, Christian Detter, Georg Rosenberger   +15 more
openaire   +2 more sources