|1|Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. (27718516)
Kernohan K.D.... Chitayat D.
|2|Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. (26640227)
Thomas-Teinturier C.... de Nanclares G.P.
|3|Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? (25994865)
Stange K.... Seemann P.
|4|Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. (25801215)
Wang J.... Zhang Q.
|5|Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. (25932455)
Jang M.A.... Ki C.S.
|6|Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. (25758993)
Racacho L.... Bulman D.E.
|7|Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. (25820810)
Al-Qattan M.M.... Al Balwi M.A.
|8|Concomitance of types D and E brachydactyly: a case report. (26698251)
TA1lay Koca T.... A8iledaA9 A9zdemir F.
|9|Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). (24710560)
Liu X.... Ma J.
|10|Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. (24715855)
Uyguner Z.O.... Kayserili H.
|11|Brachydactyly and atrial septal defect: when the digits point to the heart. (25456580)
Siniorakis E.... Rentoukas E.
|12|Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson. (22406540)
Palka C.... Stuppia L.
|13|Deletion and point mutations of PTHLH cause brachydactyly type E. (20170896)
Klopocki E.... Mundlos S.
|14|Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. (19806586)
|15|A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
Castori M.... Dallapiccola B.
|16|Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. (18494372)
Williams K.D.... Towne B.
|17|Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. (17236141)
Zhao X.... Zhang X.
|18|Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. (16762827)
Chaabouni M.... Romana S.P.
|19|X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. (16001442)
Chassaing N.... Lacombe D.
|20|Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome? (15658617)
Stoll C.... Alembik Y.
|21|Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. (12548386)
Olivieri C.... Danesino C.
|22|Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. (12959913)
Luft F.C.... Bahring S.
|23|Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (14523231)
Lehmann K.... Mundlos S.
|24|A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. (12384778)
McCready M.E.... Bulman D.E.
|25|Glypican 1 gene: good candidate for brachydactyly type E. (11920836)
Syrrou M.... Fryns J.P.
|26|Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
Galjaard R.J.... Heutink P.
|27|Intrafamilial clinical variability in type C brachydactyly. (11837604)
Debeer P.... Fryns J.P.
|28|Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome? (10323731)
Lacassie Y.... Stahls P.F.
|29|Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. (10327250)
de Ravel T.J.... Jenkins T.
|30|A new multiple malformation syndrome of MA1llerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis. (9272710)
Kumar D.... Masel J.P.
|31|Brachydactyly type C gene maps to human chromsome 12q24. (8954778)
Polymeropoulos M.H.... Francomano C.A.
|32|Characteristic facies in type B brachydactyly? (7981857)
Houlston R.S.... Temple I.K.
|33|Can cytomegalovirus cause brachydactyly? A case report and review of the literature. (8392455)
Cinbis M.... Balci S.
|34|Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
Wittebol-Post D.... Hennekam R.C.
|35|New skeletal dysplasia with unique brachydactyly. (1632443)
Mononen T.K.... Falk R.E.
|36|Brachydactyly type A-7 (Smorgasbord): a new entity. (2714013)
Meiselman S.A.... Goodman R.M.
|37|Familial combination of brachydactyly, type E and atrial septal defect, type II. (2591402)
Czeizel A.... GAPblyAPs P.
|38|Linkage between the genes for Wolfram syndrome and brachydactyly E. (3993691)
Bale A.E.... Zakov Z.N.
|39|Inheritance of brachydactyly type D. (6747264)
Gray E.... Hurt V.K.
|40|Familial colorectal cancer and hereditary brachydactyly. (6784851)
Macrae F.A.... St John D.J.
|41|Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister. (7252997)
Phillips C.I.... Newton M.
|42|Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia. (513089)
Crawfurd M.D.... SaldaA+a-Garcia P.
|43|Brachydactyly type B and symphalangism in different members of a Mexican family. (1081366)
Zavala C.... Lisker R.
|44|Dermatoglyphics in patients with a syndrome of brachydactyly, short stature and hypertension. (4805188)
Taysi K.... Bilginturan N.
|45|Brachydactyly and pseudo-pseudohypoparathyroidism. (5703222)
|46|Brachydactyly and outflow heart tract obstruction. Report of two cases. (6081024)
SA!nchez Cascos A.
|47|Hereditary brachydactyly. (5961825)
Hoefnagel D.... Gerald P.S.
|48|Craniofacial dysplasia associated with congenital cataract, impairment of hearing and brachydactyly. (5929136)
|49|BRACHYDACTYLY--FAMILIAL OCCURRENCE IN ONE FAMILY. (14217333)
NADKARNI M.G.... NADKARNI N.M.
|50|Spherophakia with brachydactyly; comparison with Marfan's syndrome. (13104565)