165 related articles for article (PubMed ID: 22828468)
1. A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.
Gutiérrez-Amavizca BE; Brambila-Tapia AJ; Juárez-Vázquez CI; Holder-Espinasse M; Manouvrier-Hanu S; Escande F; Barros-Núñez P
Eur J Med Genet; 2012 Nov; 55(11):611-4. PubMed ID: 22828468
[TBL] [Abstract][Full Text] [Related]
2. Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.
Giedion A; Prader A; Fliegel C; Krasikov N; Langer L; Poznanski A
Am J Med Genet; 1993 Oct; 47(5):765-71. PubMed ID: 8267010
[TBL] [Abstract][Full Text] [Related]
3. Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
Al-Qattan MM; Al-Motairi MI; Al Balwi MA
Am J Med Genet A; 2015 Jul; 167(7):1621-6. PubMed ID: 25820810
[TBL] [Abstract][Full Text] [Related]
4. [Touched by an angel].
Tolk JJ; van Mourik JBA
Ned Tijdschr Geneeskd; 2020 Mar; 164():. PubMed ID: 32392006
[TBL] [Abstract][Full Text] [Related]
5. Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
Seo SH; Park MJ; Kim SH; Kim OH; Park S; Cho SI; Park SS; Seong MW
Ann Lab Med; 2013 Mar; 33(2):150-2. PubMed ID: 23483675
[TBL] [Abstract][Full Text] [Related]
6. A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.
Faryal S; Farooq M; Abdullah U; Ali Z; Saadi SM; Ullah F; Khan K; Sarwar Y; Sher M; Chopra AA; Tommerup N; Baig SM
Eur J Med Genet; 2021 Jul; 64(7):104226. PubMed ID: 33872773
[TBL] [Abstract][Full Text] [Related]
7. Total hip arthroplasty for a patient with angel-shaped phalango-epiphyseal dysplasia (ASPED). A case report.
Warashina H; Sakano S; Kitamura S; Yamauchi K; Kito H; Hasegawa Y
Nagoya J Med Sci; 2002 Nov; 65(3-4):103-7. PubMed ID: 12580536
[TBL] [Abstract][Full Text] [Related]
8. Embryology of familial (non-syndromic) brachydactyly of the hand.
Al-Qattan MM
J Hand Surg Eur Vol; 2014 Nov; 39(9):926-33. PubMed ID: 24300509
[TBL] [Abstract][Full Text] [Related]
9. Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report.
Li Q; Bai F; Chen S
Orthop Surg; 2022 Sep; 14(9):2386-2390. PubMed ID: 35819086
[TBL] [Abstract][Full Text] [Related]
10. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L; Benito-Sanz S; Aza-Carmona M; Pereda A; Parrón-Pajares M; de la Torre C; Vasques GA; Funari MFA; Travessa AM; Dias P; Suarez-Ortega L; González-Buitrago J; Portillo-Najera NE; Llano-Rivas I; Martín-Frías M; Ramírez-Fernández J; Sánchez Del Pozo J; Garzón-Lorenzo L; Martos-Moreno GA; Alfaro-Iznaola C; Mulero-Collantes I; Ruiz-Ocaña P; Casano-Sancho P; Portela A; Ruiz-Pérez L; Del Pozo A; Vallespín E; Solís M; Lerario AM; González-Casado I; Ros-Pérez P; Pérez de Nanclares G; Jorge AAL; Heath KE
J Clin Endocrinol Metab; 2020 Aug; 105(8):. PubMed ID: 32311039
[TBL] [Abstract][Full Text] [Related]
11. Grebe dysplasia and the spectrum of CDMP1 mutations.
Stelzer C; Winterpacht A; Spranger J; Zabel B
Pediatr Pathol Mol Med; 2003; 22(1):77-85. PubMed ID: 12687891
[TBL] [Abstract][Full Text] [Related]
12. Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.
Schwabe GC; Türkmen S; Leschik G; Palanduz S; Stöver B; Goecke TO; Mundlos S
Am J Med Genet A; 2004 Feb; 124A(4):356-63. PubMed ID: 14735582
[TBL] [Abstract][Full Text] [Related]
13. The mutational spectrum of brachydactyly type C.
Everman DB; Bartels CF; Yang Y; Yanamandra N; Goodman FR; Mendoza-Londono JR; Savarirayan R; White SM; Graham JM; Gale RP; Svarch E; Newman WG; Kleckers AR; Francomano CA; Govindaiah V; Singh L; Morrison S; Thomas JT; Warman ML
Am J Med Genet; 2002 Oct; 112(3):291-6. PubMed ID: 12357473
[TBL] [Abstract][Full Text] [Related]
14. Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.
Ullah A; Umair M; Hussain S; Jan A; Ahmad W
Pediatr Int; 2018 Mar; 60(3):304-306. PubMed ID: 29436063
[No Abstract] [Full Text] [Related]
15. [Angel-shaped phalango-epiphyseal dysplasia: case report].
Conci R; Oller A; Moya M; Echegaray A; Frush D
Arch Argent Pediatr; 2017 Feb; 115(1):e1-e4. PubMed ID: 28097844
[TBL] [Abstract][Full Text] [Related]
16. [Brachydactyly type A4 (brachymesophalangia II and V, Temtamy type). A rare type of brachydactyly].
Reichenbach H; Hörmann D; Theile H
Kinderarztl Prax; 1993 Mar; 61(2):59-62. PubMed ID: 8510402
[TBL] [Abstract][Full Text] [Related]
17. Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.
Holder-Espinasse M; Escande F; Mayrargue E; Dieux-Coeslier A; Fron D; Doual-Bisser A; Boute-Benejean O; Robert Y; Porchet N; Manouvrier-Hanu S
J Med Genet; 2004 Jun; 41(6):e78. PubMed ID: 15173244
[No Abstract] [Full Text] [Related]
18. Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
Badura-Stronka M; Mróz D; Beighton P; Łukawiecki S; Wicher K; Latos-Bieleńska A; Kozłowski K
Birth Defects Res A Clin Mol Teratol; 2015 Jun; 103(6):567-72. PubMed ID: 25776145
[TBL] [Abstract][Full Text] [Related]
19. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
Savarirayan R; White SM; Goodman FR; Graham JM; Delatycki MB; Lachman RS; Rimoin DL; Everman DB; Warman ML
Am J Med Genet A; 2003 Mar; 117A(2):136-42. PubMed ID: 12567410
[TBL] [Abstract][Full Text] [Related]
20. Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.
Martinez-Garcia M; Garcia-Canto E; Fenollar-Cortes M; Aytes AP; Trujillo-Tiebas MJ
J Bone Miner Metab; 2016 Sep; 34(5):599-603. PubMed ID: 26275437
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
