77 related articles for article (PubMed ID: 8054971)
1. Chromosome 4p16 and osteochondroplasias.
Urioste M; Martinez-Frias ML; Bermejo E; Villa A; Jimenez N; Romero D; Nieto C
Nat Genet; 1994 Apr; 6(4):334. PubMed ID: 8054971
[No Abstract] [Full Text] [Related]
2. Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.
Urioste M; Martínez-Frías ML; Bermejo E; Jiménez N; Romero D; Nieto C; Villa A
Am J Med Genet; 1994 Jan; 49(1):94-7. PubMed ID: 7909650
[TBL] [Abstract][Full Text] [Related]
3. The gene for achondroplasia maps to the telomeric region of chromosome 4p.
Velinov M; Slaugenhaupt SA; Stoilov I; Scott CI; Gusella JF; Tsipouras P
Nat Genet; 1994 Mar; 6(3):314-7. PubMed ID: 8012397
[TBL] [Abstract][Full Text] [Related]
4. De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes.
Chen H; Mirkin D; Yang S
Am J Med Genet; 1994 Nov; 53(2):165-71. PubMed ID: 7856642
[TBL] [Abstract][Full Text] [Related]
5. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
Krakow D; Salazar D; Wilcox WR; Rimoin DL; Cohn DH
Eur J Hum Genet; 2000 Aug; 8(8):645-8. PubMed ID: 10951528
[TBL] [Abstract][Full Text] [Related]
6. Thanatophoric dysplasia: an autosomal dominant condition?
Martínez-Frías ML; Ramos-Arroyo MA; Salvador J
Am J Med Genet; 1988 Dec; 31(4):815-20. PubMed ID: 3239573
[TBL] [Abstract][Full Text] [Related]
7. [Fatal nanism: 3 different entities].
Escrivá Tomás P; Clemente Yago F; López Peña LF; Cidras Pidre M; Orts Serrano F; Serrano Martínez JL; Jiménez Cobo B
An Esp Pediatr; 1991 Apr; 34(4):305-9. PubMed ID: 2069281
[TBL] [Abstract][Full Text] [Related]
8. Cardiac malformation in two infants with hypochondrogenesis.
Potocki L; Abuelo DN; Oyer CE
Am J Med Genet; 1995 Nov; 59(3):295-9. PubMed ID: 8599352
[TBL] [Abstract][Full Text] [Related]
9. [Short rib-polydactyly syndrome].
Wilhelm O; Simon G; Baráth K; Arányi A; Nagy L
Orv Hetil; 1984 Dec; 125(51):3117-9. PubMed ID: 6514353
[No Abstract] [Full Text] [Related]
10. Overlap between Majewski and hydrolethalus syndromes: a report of two cases.
Sharma AK; Phadke S; Chandra K; Upreti M; Khan EM; Naveed M; Agarwal SS
Am J Med Genet; 1992 Aug; 43(6):949-53. PubMed ID: 1415345
[TBL] [Abstract][Full Text] [Related]
11. [Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].
Ezquieta Zubicaray B; Iguacel AO; Varela Junquera JM; Jariego Fente CM; González Gancedo P; Gracia Bouthelier R
Med Clin (Barc); 1999 Mar; 112(8):290-3. PubMed ID: 10207844
[TBL] [Abstract][Full Text] [Related]
12. The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.
Polymeropoulos MH; Ide SE; Wright M; Goodship J; Weissenbach J; Pyeritz RE; Da Silva EO; Ortiz De Luna RI; Francomano CA
Genomics; 1996 Jul; 35(1):1-5. PubMed ID: 8661097
[TBL] [Abstract][Full Text] [Related]
13. The genetic basis of the osteochondrodysplasias.
Baitner AC; Maurer SG; Gruen MB; Di Cesare PE
J Pediatr Orthop; 2000; 20(5):594-605. PubMed ID: 11008738
[TBL] [Abstract][Full Text] [Related]
14. Asphyxiating thoracic dysplasia.
Vanhoenacker FM; Van de Perre S; de Jongh K; De Schepper AM
JBR-BTR; 2004; 87(1):50. PubMed ID: 15055336
[No Abstract] [Full Text] [Related]
15. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta.
Orioli IM; Castilla EE; Scarano G; Mastroiacovo P
Am J Med Genet; 1995 Nov; 59(2):209-17. PubMed ID: 8588588
[TBL] [Abstract][Full Text] [Related]
16. Thanatophoric dysplasia in identical twins.
Young ID; Patel I; Lamont AC
J Med Genet; 1989 Apr; 26(4):276-9. PubMed ID: 2716037
[TBL] [Abstract][Full Text] [Related]
17. Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.
Eyre S; Roby P; Wolstencroft K; Spreckley K; Aspinwall R; Bayoumi R; Al-Gazali L; Ramesar R; Beighton P; Gleghorn L; Wallis G
J Med Genet; 2005 Jun; 42(6):e34. PubMed ID: 15937074
[No Abstract] [Full Text] [Related]
18. Pattern recognition in bone dysplasias.
Spranger J
Prog Clin Biol Res; 1985; 200():315-42. PubMed ID: 4080742
[TBL] [Abstract][Full Text] [Related]
19. Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.
Bernstein R; Isdale J; Pinto M; Du Toit Zaaijman J; Jenkins T
J Med Genet; 1985 Feb; 22(1):46-53. PubMed ID: 3981580
[TBL] [Abstract][Full Text] [Related]
20. [Thanatophoric dwarfism. A anatomo-clinical case].
Toudic L; Leroy JP; Cozic A; Goude H; Castel Y
Ann Pediatr (Paris); 1976 Oct; 23(10):633-7. PubMed ID: 16106891
[No Abstract] [Full Text] [Related]
[Next] [New Search]