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■ Abbreviation / Long Form : CCA / congenital contractural arachnodactyly

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Total Number of Papers: 48
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Abbreviation:   CCA  (>> Co-occurring Abbreviation)
Long Form:   congenital contractural arachnodactyly
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No. Year Title Co-occurring Abbreviation
2018 A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family. ---
2017 Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. cbEGF, FBN2, WES
2016 Fibrillin microfibrils in bone physiology. MFS
2016 The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy. FET, MDA, NGS, PGD, SBMA, SNP, SRY, TE, WGA
2016 Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly. WES
2015 Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. ---
2015 Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy. ---
2013 Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. BHS
2013 Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate. AD, FBN1, FBN2, GD, MFS, WMS
10  2012 Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. FBN2, NTM
11  2010 ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. ENU, FBN1
12  2009 Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. FBN2, MFS
13  2009 The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. LSDB, UMD
14  2008 Bone and soft connective tissue alterations result from loss of fibrillin-2 expression. CT
15  2008 [Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases]. FBN2, MFS
16  2007 FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. ---
17  2006 Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). ---
18  2005 [Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. ---
19  2004 Orofacial manifestations of congenital fibrillin deficiency: pathogenesis and clinical diagnostics. MFS
20  2003 Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. ---
21  2003 van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. MWS, VDEGS
22  2002 Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. FBN2
23  2002 Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. MFS, SSCP
24  2001 Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. ---
25  2001 Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. MFS
26  2000 Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. ---
27  1998 A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. FBN2, G3340C
28  1998 Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. MFS
29  1998 Increased urinary excretion of pyridinoline and deoxypyridinoline in a girl with congenital contractural arachnodactyly. ---
30  1998 Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. FBN2
31  1997 A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. FBN2
32  1997 Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. ---
33  1997 Prenatal diagnosis in congenital contractural arachnodactyly. FBN2
34  1996 Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. ---
35  1995 Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. EGF, FBN2, MFS
36  1995 [Beals-Hecht Syndrome: report of a neonatal case]. ---
37  1994 Congenital contractural arachnodactyly (Beals syndrome). ---
38  1993 Congenital contractural arachnodactyly in two double second cousins: possible homozygosity. ---
39  1992 Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly. ---
40  1991 Cardiac anomalies complicating congenital contractural arachnodactyly. ---
41  1989 [Congenital contractural arachnodactyly. Report of 2 clinical cases]. ---
42  1988 [The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate]. ---
43  1986 A severe form of congenital contractural arachnodactyly in two newborn infants. ---
44  1985 Cardiac defects in a patient with congenital contractural arachnodactyly. ---
45  1985 Congenital contractural arachnodactyly. Report of four additional families and review of literature. ---
46  1984 Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred. MVP
47  1979 Congenital contractural arachnodactyly: description of a new kindred. ---
48  1976 Congenital contractural arachnodactyly. ---