|1|Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. (23812741)
Farooq M.... Shimomura Y.
|2|Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal. (24022874)
Williams K.D.... Williams-Blangero S.
|3|A novel mutation in CDMP1 causes brachydactyly type C with 'angel- shaped phalanx'. A genotype-phenotype correlation in the mutational spectrum. (22828468)
Gutierrez-Amavizca B.E.... Barros-Nunez P.
|4|Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. (22233338)
Jamsheer A.... Latos-BieleA8ska A.
|5|A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. (21357617)
Su P.... Wang Y.
|6|Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. (21537345)
Ma G.... He L.
|7|Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]. (21377971)
Li C.M.... Feng H.G.
|8|Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling. (20024692)
Guo S.... He L.
|9|Retraction: Clinical features study of a brachydactyly type A1 family and the disease-causing gene location. (19806586)
|10|A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. (19640924)
Schwarzer W.... Stricker S.
|11|Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. (19208385)
Faqeih E.... Rauch F.
|12|Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. (19327734)
Dathe K.... Mundlos S.
|13|A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. (19461659)
Lv D.... Zhang X.
|14|Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene]. (19504437)
Ke X.... Liu Q.J.
|15|Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415)
Yang W.... Zhang X.
|16|A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. (17163524)
Castori M.... Dallapiccola B.
|17|Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. (18494372)
Williams K.D.... Towne B.
|18|Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene. (17486609)
Zhu G.... Gong Y.
|19|A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. (17668388)
Lehmann K.... Mundlos S.
|20|Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. (17061261)
Stricker S.... Mundlos S.
|21|A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. (16871364)
Liu M.... Wang Q.K.
|22|Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism. (15832105)
Monastirli A.... Tsambaos D.
|23|Answering a century old riddle: brachydactyly type A1. (15225411)
Gao B.... He L.
|24|Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. (14707163)
BAohring S.... Luft F.C.
|25|A case report of brachydactyly types D and E: a new variation of brachydactyly. (15215028)
Ridgeway S.... Singh D.
|26|Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. (15070926)
de Sanctis L.... de Sanctis C.
|27|Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B]. (14767912)
Yang W.... Zhang X.
|28|Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. (14735582)
Schwabe G.C.... Mundlos S.
|29|Severe aplastic anaemia in a child with brachydactyly type C. (12542502)
Svarch E.... Gale R.P.
|30|Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. (12566523)
Giordano N.... Renieri A.
|31|Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. (12525541)
Kirkpatrick T.J.... Northrup H.
|32|Glypican 1 gene: good candidate for brachydactyly type E. (11920836)
Syrrou M.... Fryns J.P.
|33|A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. (11897820)
Armour C.M.... Bulman D.E.
|34|Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. (11169564)
Galjaard R.J.... Heutink P.
|35|Intrafamilial clinical variability in type C brachydactyly. (11837604)
Debeer P.... Fryns J.P.
|36|Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (10932186)
Afzal A.R.... Jeffery S.
|37|A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. (10712204)
Yang X.... He L.
|38|Brachydactyly type B: case report and further evidence for clinical heterogeneity. (10457848)
Slavotinek A.... Clayton-Smith J.
|39|Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity. (10327250)
de Ravel T.J.... Jenkins T.
|40|Clinical and molecular studies of brachydactyly type D. (10398270)
Robin N.H.... Morrison S.
|41|Mutations in CDMP1 cause autosomal dominant brachydactyly type C. (9288091)
Polinkovsky A.... Warman M.L.
|42|Clinical and locus heterogeneity in brachydactyly type C. (9024575)
Robin N.H.... Morrison S.
|43|Unusual type of brachydactyly associated with intraventricular septal defect and deafness: a new condition? (9018415)
Camera G.... Costa M.
|44|Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13. (8933344)
Oude Luttikhuis M.E.... Trembath R.C.
|45|Characteristic facies in type B brachydactyly? (7981857)
Houlston R.S.... Temple I.K.
|46|Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. (8024616)
Reginato A.J.... Williams C.J.
|47|Pitfalls of genetic counselling in brachydactyly type C. (7856649)
Camera G.... Mantero R.
|48|Familial combination of brachydactyly, type E and atrial septal defect, type II. (2591402)
Czeizel A.... GAPblyAPs P.
|49|Bilateral femoral head collapse in an adolescent with brachydactyly (multiple epiphyseal dysplasia tarda type 1c). (7334105)
Wenger D.R.... Ezaki M.
|50|A case of brachydactyly (type Brailsford). (14895884)