| 1 |
Brachydactyly type E in an Italian family with 6p25 trisomy. ( 28111183
)
|
Fontana P....Pisanti M.A.
|
2017 |
| 2 |
Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases. ( 27320764
)
|
Ramassamy S....George R.E.
|
2016 |
| 3 |
EP10.22: Look at the fetal hands: case of brachydactyly. ( 27645172
)
|
Kaur L....Kaur M.
|
2016 |
| 4 |
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209
)
|
Zhou L....Wang J.
|
2016 |
| 5 |
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. ( 26640227
)
|
Thomas-Teinturier C....de Nanclares G.P.
|
2016 |
| 6 |
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. ( 27723096
)
|
Zaragoza M.V....Elliott A.M.
|
2016 |
| 7 |
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene. ( 26763883
)
|
Jamsheer A....Latos-BieleA8ska A.
|
2016 |
| 8 |
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. ( 27718516
)
|
Kernohan K.D....Chitayat D.
|
2016 |
| 9 |
Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. ( 26855372
)
|
Reis M.T....Martin R.M.
|
2016 |
| 10 |
A PDE3A mutation in familial hypertension and brachydactyly syndrome. ( 27053290
)
|
Boda H....Inagaki H.
|
2016 |
| 11 |
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. ( 26733284
)
|
FlAPttmann R....Spielmann M.
|
2016 |
| 12 |
Hypotrichosis, milia, brachydactyly, and frenula. ( 26177262
)
|
Jeskowiak A....BAPhm M.
|
2015 |
| 13 |
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.
|
2015 |
| 14 |
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. ( 26333564
)
|
Mumtaz S....Malik S.
|
2015 |
| 15 |
Concomitance of types D and E brachydactyly: a case report. ( 26698251
)
|
TA1lay Koca T....A8iledaA9 A9zdemir F.
|
2015 |
| 16 |
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature. ( 25801215
)
|
Wang J....Zhang Q.
|
2015 |
| 17 |
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1. ( 25932455
)
|
Jang M.A....Ki C.S.
|
2015 |
| 18 |
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. ( 25820810
)
|
Al-Qattan M.M....Al Balwi M.A.
|
2015 |
| 19 |
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. ( 25758993
)
|
Racacho L....Bulman D.E.
|
2015 |
| 20 |
Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B-Related brachydactyly. ( 25776145
)
|
Badura-Stronka M....KozA8owski K.
|
2015 |
| 21 |
Mutation screening in candidate genes in four Chinese brachydactyly families. ( 25696018
)
|
Dong S....Zheng F.
|
2015 |
| 22 |
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. ( 25961942
)
|
Maass P.G....Baehring S.
|
2015 |
| 23 |
Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly. ( 26283042
)
|
Toka O....Luft F.C.
|
2015 |
| 24 |
Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B. ( 25756154
)
|
MyA9liwiec M....Midro A.T.
|
2015 |
| 25 |
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. ( 25402011
)
|
Jean-MarAsais N....Plessis G.
|
2014 |
| 26 |
Brachydactyly and atrial septal defect: when the digits point to the heart. ( 25456580
)
|
Siniorakis E....Rentoukas E.
|
2014 |
| 27 |
A new mutation in the gene ROR2 causes brachydactyly type B1. ( 24954533
)
|
Huang D....He R.
|
2014 |
| 28 |
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. ( 25092592
)
|
Stange K....Seemann P.
|
2014 |
| 29 |
Leukaemia cutis as the initial manifestation in a child with brachydactyly in chronic phase of chronic myeloid leukaemia. ( 25158808
)
|
Wang S....Wang W.
|
2014 |
| 30 |
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature. ( 25400355
)
|
Chatterjee D.
|
2014 |
| 31 |
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). ( 24710560
)
|
Liu X....Ma J.
|
2014 |
| 32 |
Gradual development of brachydactyly in pseudohypoparathyroidism. ( 24684469
)
|
VirA!gh K....TA^th M.
|
2014 |
| 33 |
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.
|
2014 |
| 34 |
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. ( 24269551
)
|
Sher G....Naeem M.
|
2014 |
| 35 |
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly in a Finnish Woman: First Confirmation of a Duplication in RUNX2 as Pathogenic Variant. ( 25311905
)
|
Avela K....Rauch F.
|
2014 |
| 36 |
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. ( 23188045
)
|
Villavicencio-Lorini P....Horn D.
|
2013 |
| 37 |
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. ( 23483675
)
|
Seo S.H....Seong M.W.
|
2013 |
| 38 |
Absence of nasal bone and brachydactyly: a probable new familial syndrome. ( 23810940
)
|
Guo H....Yang D.Y.
|
2013 |
| 39 |
Brachydactyly E: isolated or as a feature of a syndrome. ( 24028571
)
|
Pereda A....Perez de Nanclares G.
|
2013 |
| 40 |
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.
|
2013 |
| 41 |
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.
|
2013 |
| 42 |
Embryology of familial (non-syndromic) brachydactyly of the hand. ( 24300509
)
|
Al-Qattan M.M.
|
2013 |
| 43 |
Targeted loss of the ATR-X syndrome protein in the limb mesenchyme of mice causes brachydactyly. ( 23892236
)
|
Solomon L.A....BAcrubAc N.G.
|
2013 |
| 44 |
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. ( 23073310
)
|
Leroy C....Doco-Fenzy M.
|
2013 |
| 45 |
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. ( 23290074
)
|
Moffatt P....Rauch F.
|
2013 |
| 46 |
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. ( 24357125
)
|
Oehl-Jaschkowitz B....Tzschach A.
|
2013 |
| 47 |
A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. ( 23238279
)
|
Habib R....Ahmad W.
|
2013 |
| 48 |
Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. ( 23645122
)
|
HacA+hamdioA9lu B....Yesilkaya E.
|
2013 |
| 49 |
Non-syndromic brachydactyly, known as Shamoji-yubi or Mamushi-yubi in Japan. ( 24081602
)
|
Saraya T....Goto H.
|
2013 |
| 50 |
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. ( 22233338
)
|
Jamsheer A....Latos-BieleA8ska A.
|
2012 |
