| 1 | Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. (21537345) | Ma G.... He L. | 2011 | SHH |
| 2 | Mutation analysis of the pathogenic gene in a Chines e family with Brachydactyly type B1]. (21377971) | Li C.M.... Feng H.G. | 2011 | ROR2 |
| 3 | Mutations in GDF5 presenting as semidominant brachydactyly A1. (20683927) | Byrnes A.M.... Bulman D.E. | 2010 | GDF5, IHH |
| 4 | Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. (21129728) | Li Y.... Wollnik B. | 2010 | CHSY1 |
| 5 | A cis-regulatory site downregulates PTHLH in transloc ation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. (20015959) | Maass P.G.... BAohring S. | 2010 | PTHLH |
| 6 | Haploinsufficiency of HDAC4 causes brachydactyly ment al retardation syndrome, with brachydactyly type E, developmental delays, and b ehavioral problems. (20691407) | Williams S.R.... Elsea S.H. | 2010 | HDAC4 |
| 7 | 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. | 2009 | ROR2 |
| 8 | Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. (19146779) | Hellani A.... El-Akoum S. | 2009 | ROR2 |
| 9 | A gradient of ROR2 protein stability and membrane loc alization confers brachydactyly type B or Robinow syndrome phenotypes. (19640924) | Schwarzer W.... Stricker S. | 2009 | ROR2 |
| 10 | Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. (19208385) | Faqeih E.... Rauch F. | 2009 | COL1A2 |
| 11 | Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. (19327734) | Dathe K.... Mundlos S. | 2009 | BMPR1B, BMP2, GDF5 |
| 12 | Brachydactyly type A1 associated with unusual radiolo gical findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene . (19464397) | Stattin E.L.... Dahl N. | 2009 | IHH |
| 13 | The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. (18353862) | Raz R.... Economides A.N. | 2008 | ROR2 |
| 14 | Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (18283415) | Yang W.... Zhang X. | 2008 | GDF5 |
| 15 | Brachydactyly type A2 associated with a defect in proGDF5 processing. (18203755) | Ploger F.... Mundlos S. | 2008 | GDF5 |
| 16 | The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. (18365018) | Akbarzadeh S.... Heath J.K. | 2008 | ROR2 |
| 17 | Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. (17236141) | Zhao X.... Zhang X. | 2007 | EPHA7, HOXD10, HOXD13 |
| 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. | 2007 | IHH |
| 19 | Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydactyly'. (17602228) | Suzuki T.... Honda Z. | 2007 | GDF5 |
| 20 | A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. (17668388) | Lehmann K.... Mundlos S. | 2007 | NOG, ROR2 |
| 21 | 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. | 2006 | ROR2 |
| 22 | A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. (16957682) | Lehmann K.... Mundlos S. | 2006 | BMPR1B |
| 23 | Brachydactyly type B1: report of a family with de novo ROR2 mutation. (17101003) | Hamamy H.... Ajlouni K. | 2006 | ROR2 |
| 24 | A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. (16014698) | Kjaer K.W.... Mundlos S. | 2006 | BMPR1B, GDF5 |
| 25 | Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. (16127465) | Seemann P.... Mundlos S. | 2005 | BMPR1A, BMPR1B, GDF5 |
| 26 | Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome? (15658617) | Stoll C.... Alembik Y. | 2004 | APC |
| 27 | Brachydactyly and short stature in a kindred with early-onset parkinsonism. (15368505) | Dekker M.C.... van Duijn C.M. | 2004 | PARK7 |
| 28 | Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. (14707163) | Bahring S.... Luft F.C. | 2004 | PDE3A, ABCC9 |
| 29 | Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. (15070926) | de Sanctis L.... De Sanctis C. | 2004 | GNAS |
| 30 | 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. | 2003 | ROR2 |
| 31 | Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. (12959913) | Luft F.C.... Bahring S. | 2003 | REN, NR3C2, ABCC9 |
| 32 | Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (14523231) | Lehmann K.... Mundlos S. | 2003 | BMPR1B |
| 33 | Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. (12649808) | Johnson D.... Wilkie A.O. | 2003 | HOXD13 |
| 34 | 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. | 2003 | IHH |
| 35 | One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. (12815588) | Afzal A.R.... Jeffery S. | 2003 | ROR2 |
| 36 | A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. (12384778) | McCready M.E.... Bulman D.E. | 2002 | IHH |
| 37 | A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. (11897820) | Armour C.M.... Bulman D.E. | 2002 | BDA1B |
| 38 | Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). (12121354) | Faiyaz-Ul-Haque M.... Tsui L.-C. | 2002 | GDF5 |
| 39 | The mutational spectrum of brachydactyly type C. (12357473) | Everman D.B.... Warman M.L. | 2002 | GDF5 |
| 40 | Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. (11455389) | Gao B.... He L. | 2001 | IHH |
| 41 | Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. (10700182) | Oldridge M.... Wilkie A.O.M. | 2000 | ROR2 |
| 42 | Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (10932186) | Afzal A.R.... Jeffery S. | 2000 | ROR2 |
| 43 | Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. (9973296) | Oldridge M.... Wilkie A.O. | 1999 | ROR2 |
| 44 | Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. (9600744) | Graham J.M.... Jabs E.W. | 1998 | FGFR3 |
| 45 | A cross-over medication trial for patients with autosomal-dominant hypertension with brachydactyly. (9453014) | Schuster H.... Luft F.C. | 1998 | REN |
| 46 | Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachydactyly. (9303020) | Naraghi R.... Luft F.C. | 1997 | REN |
| 47 | Mutations in CDMP1 cause autosomal dominant brachydactyly type C. (9288091) | Polinkovsky A.... Warman M.L. | 1997 | GDF5 |
| 48 | Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension. (8952601) | Schuster H.... Luft F.C. | 1996 | REN |
| 49 | Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. (7847374) | Wilson L.C.... Read A.P. | 1995 | BDMR |
| 50 | 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. | 1994 | COL2A1 |
