173 related articles for article (PubMed ID: 27577507)
1. Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.
Umair M; Rafique A; Ullah A; Ahmad F; Ali RH; Nasir A; Ansar M; Ahmad W
Congenit Anom (Kyoto); 2017 Mar; 57(2):45-51. PubMed ID: 27577507
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Genetics of human isolated acromesomelic dysplasia.
Khan S; Basit S; Khan MA; Muhammad N; Ahmad W
Eur J Med Genet; 2016 Apr; 59(4):198-203. PubMed ID: 26926249
[TBL] [Abstract][Full Text] [Related]
4. Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
Graul-Neumann LM; Deichsel A; Wille U; Kakar N; Koll R; Bassir C; Ahmad J; Cormier-Daire V; Mundlos S; Kubisch C; Borck G; Klopocki E; Mueller TD; Doelken SC; Seemann P
Eur J Hum Genet; 2014 Jun; 22(6):726-33. PubMed ID: 24129431
[TBL] [Abstract][Full Text] [Related]
5. A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.
Basit S; Naqvi SK; Wasif N; Ali G; Ansar M; Ahmad W
BMC Med Genet; 2008 Nov; 9():102. PubMed ID: 19038017
[TBL] [Abstract][Full Text] [Related]
6. A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
Stange K; Désir J; Kakar N; Mueller TD; Budde BS; Gordon CT; Horn D; Seemann P; Borck G
Orphanet J Rare Dis; 2015 Jun; 10():84. PubMed ID: 26105076
[TBL] [Abstract][Full Text] [Related]
7. A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
Ullah A; Umair M; Muhammad D; Bilal M; Lee K; Leal SM; Ahmad W
Ann Hum Genet; 2018 May; 82(3):129-134. PubMed ID: 29322508
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.
Faiyaz-Ul-Haque M; Faqeih EA; Al-Zaidan H; Al-Shammary A; Zaidi SH
J Bone Miner Metab; 2008; 26(6):648-52. PubMed ID: 18979166
[TBL] [Abstract][Full Text] [Related]
10. A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.
Lhousni S; Charif M; Derouich Y; Elidrissi Errahhali M; Elidrissi Errahhali M; Ouarzane M; Lenaers G; Boulouiz R; Belahcen M; Bellaoui M
Bone; 2023 Oct; 175():116860. PubMed ID: 37524292
[TBL] [Abstract][Full Text] [Related]
11. Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.
Faivre L; Le Merrer M; Megarbane A; Gilbert B; Mortier G; Cusin V; Munnich A; Maroteaux P; Cormier-Daire V
J Med Genet; 2000 Jan; 37(1):52-4. PubMed ID: 10633136
[TBL] [Abstract][Full Text] [Related]
12. 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.
Farooq M; Nakai H; Fujimoto A; Fujikawa H; Kjaer KW; Baig SM; Shimomura Y
Hum Genet; 2013 Nov; 132(11):1253-64. PubMed ID: 23812741
[TBL] [Abstract][Full Text] [Related]
13. Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.
Irfanullah ; Zeb A; Shinwari N; Shah K; Gilani SZT; Khan S; Lee KW; Raza SI; Hussain S; Liaqat K; Ahmad W
Int J Biochem Cell Biol; 2018 Sep; 102():76-86. PubMed ID: 30016695
[TBL] [Abstract][Full Text] [Related]
14. Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
Faiyaz-Ul-Haque M; Ahmad W; Wahab A; Haque S; Azim AC; Zaidi SH; Teebi AS; Ahmad M; Cohn DH; Siddique T; Tsui LC
Am J Med Genet; 2002 Jul; 111(1):31-7. PubMed ID: 12124730
[TBL] [Abstract][Full Text] [Related]
15. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
Faden M; AlZahrani F; Mendoza-Londono R; Dupuis L; Hartley T; Kannu P; Raiman JA; Howard A; Qin W; Tetreault M; Xi JQ; Al-Thamer I; ; Maas RL; Boycott K; Alkuraya FS
Am J Hum Genet; 2015 Oct; 97(4):608-15. PubMed ID: 26365341
[TBL] [Abstract][Full Text] [Related]
16. A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.
Langer LO; Cervenka J; Camargo M
Hum Genet; 1989 Mar; 81(4):323-8. PubMed ID: 2703235
[TBL] [Abstract][Full Text] [Related]
17. Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.
Irfanullah ; Umair M; Khan S; Ahmad W
Ann Hum Genet; 2015 Jul; 79(4):238-44. PubMed ID: 25959430
[TBL] [Abstract][Full Text] [Related]
18. Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Simsek-Kiper PO; Urel-Demir G; Taskiran EZ; Arslan UE; Nur B; Mihci E; Haliloglu M; Alanay Y; Utine GE; Boduroglu K
J Hum Genet; 2021 Jun; 66(6):585-596. PubMed ID: 33288834
[TBL] [Abstract][Full Text] [Related]
19. A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).
Mustafa S; Akhtar Z; Latif M; Hassan M; Faisal M; Iqbal F
Genes Genomics; 2020 Aug; 42(8):847-854. PubMed ID: 32506268
[TBL] [Abstract][Full Text] [Related]
20. Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.
Kant SG; Polinkovsky A; Mundlos S; Zabel B; Thomeer RT; Zonderland HM; Shih L; van Haeringen A; Warman ML
Am J Hum Genet; 1998 Jul; 63(1):155-62. PubMed ID: 9634515
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]