|1|Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. (27196565)
Deng H.... Song Z.
|2|ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). (25055871)
Patel N.... Alkuraya F.S.
|3|Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis. (23296716)
Filges I.... Hall J.G.
|4|A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. (22357925)
Jao L.E.... Wente S.R.
|5|Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (22610851)
Markus B.... Birk O.S.
|6|A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly. (19473076)
Chen Y.... Li H.
|7|Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant. (18718019)
Al Kaissi A.... Klaushofer K.
|8|Myopathy, noncompaction, and the Takotsubo phenomenon in congenital contractural arachnodactyly (Beals syndrome). (17520759)
Finsterer J.... StAPllberger C.
|9|Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). (17106180)
Matsumoto T.... Fukunaga Y.
|10|Congenital contractural arachnodactyly (Beals syndrome). (16740166)
TunAsbilek E.... Alanay Y.
|11|Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome]. (15912465)
|12|Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association. (16440887)
Alptekin N.... Tekin M.
|13|Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? (15017482)
KA1peli S.... TunAsbilek E.
|14|Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. (14649616)
Ayers K.M.... Drummond B.K.
|15|van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. (12673658)
Schweitzer D.N.... Graham J.M.
|16|Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (11754102)
Gupta P.A.... Milewicz D.M.
|17|Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome? (12150211)
MAcgarbanAc A.... Caillaud C.
|18|Multiple congenital contractures: birth prevalence, etiology, and outcome. (11815765)
Darin N.... Tulinius M.
|19|Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. (10797416)
Belleh S.... Godfrey M.
|20|Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly. (9605585)
Courtens W.... Wauters J.
|21|Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. (9683599)
MAokelAo-Bengs P.... Peltonen L.
|22|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. (9714438)
Park E.-S.... Milewicz D.M.
|23|Increased urinary excretion of pyridinoline and deoxypyridinoline in a girl with congenital contractural arachnodactyly. (11517966)
Fujisawa Y.... Kida K.
|24|A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. (9199560)
Maslen C.... Steinmann B.
|25|Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. (8900230)
Wang M.... Godfrey M.
|26|Congenital contractural arachnodactyly (Beals syndrome). (7815423)
|27|Lethal congenital contracture syndrome: further delineation and genetic aspects. (7966188)
Vuopala K.... Herva R.
|28|Paraplegia and congenital contractures as a consequence of intrauterine trauma. (1621769)
Weyerts L.K.... James H.E.
|29|Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. (1542340)
Tsipouras P.... Steinmann B.
|30|Multiple congenital contractures (arthrogryposis) in association with Peters' anomaly and chorioretinal colobomata. (1287175)
Sullivan T.J.... Morin J.D.
|31|Congenital contractural arachnodactyly with unilateral lower limb deficiency. (1519656)
Cole T.R.... Hughes H.E.
|32|Congenital contractural arachnodactyly in a black African kindred. (1807801)
Wainer S.... Vos E.T.
|33|Multiple congenital contractures (MCC) and cleft palate induced in goats by ingestion of piperidine alkaloid-containing plants: reduction in fetal movement as the probable cause. (2381024)
Panter K.E.... Callan R.J.
|34|The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases. (3189411)
Hageman G.... Willemse J.
|35|Pursuing teratogenic causes of multiple congenital contractures. (3047415)
Cribb A.... Koren G.
|36|The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions. (3561701)
Hageman G.... Verdonck A.F.
|37|Muscle weakness and congenital contractures in a case of congenital myasthenia. (3958180)
Hageman G.... Willemse J.
|38|Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. (3840649)
Lowry R.B.... Marx L.
|39|A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. (4039531)
Wieacker P.... Sauer M.
|40|Congenital contractural arachnodactyly. Report of a case and of an operation for knee contracture. (3968142)
|41|An infant with Marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathy. (3921377)
Tamminga P.... Oorthuys J.W.
|42|Congenital contractural arachnodactyly. Report of four additional families and review of literature. (4017278)
Ramos Arroyo M.A.... Beals R.K.
|43|Chromosomal abnormalities associated with congenital contractures (arthrogryposis). (3995785)
Reed S.D.... Timmons C.
|44|Congenital contractural arachnodactyly. (6571539)
Forbes D.... Hagan R.
|45|Part I. Amyoplasia: a common, sporadic condition with congenital contractures. (6614047)
Hall J.G.... Driscoll E.P.
|46|Teratogens associated with congenital contractures in humans and in animals. (7101197)
Hall J.G.... Reed S.D.
|47|Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree. (7205489)
Bass H.N.... Marcy S.M.
|48|Congenital contractural arachnodactyly. Report of a neonate with advanced bone age. (220868)
Ho N.K.... Khoo T.K.
|49|Congenital contractural arachnodactyly. (1032834)
Kumta N.B.... Punwani D.V.
|50|Marfan syndrome with congenital contractures. (132202)
Penchaszadeh V.B.... Groiso J.A.