127 related articles for article (PubMed ID: 8012398)
1. A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.
Le Merrer M; Rousseau F; Legeai-Mallet L; Landais JC; Pelet A; Bonaventure J; Sanak M; Weissenbach J; Stoll C; Munnich A
Nat Genet; 1994 Mar; 6(3):318-21. PubMed ID: 8012398
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.
Stoilov I; Kilpatrick MW; Tsipouras P
Am J Med Genet; 1995 Jan; 55(1):127-33. PubMed ID: 7702086
[TBL] [Abstract][Full Text] [Related]
4. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.
Francomano CA; Ortiz de Luna RI; Hefferon TW; Bellus GA; Turner CE; Taylor E; Meyers DA; Blanton SH; Murray JC; McIntosh I
Hum Mol Genet; 1994 May; 3(5):787-92. PubMed ID: 8081365
[TBL] [Abstract][Full Text] [Related]
5. A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.
Bonnet D; Pelet A; Legeai-Mallet L; Sidi D; Mathieu M; Parent P; Plauchu H; Serville F; Schinzel A; Weissenbach J
Nat Genet; 1994 Apr; 6(4):405-8. PubMed ID: 8054983
[TBL] [Abstract][Full Text] [Related]
6. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.
Ikeuchi T; Asaka T; Saito M; Tanaka H; Higuchi S; Tanaka K; Saida K; Uyama E; Mizusawa H; Fukuhara N; Nonaka I; Takamori M; Tsuji S
Ann Neurol; 1997 Apr; 41(4):432-7. PubMed ID: 9124799
[TBL] [Abstract][Full Text] [Related]
7. Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
Sulisalo T; Sistonen P; Hästbacka J; Wadelius C; Mäkitie O; de la Chapelle A; Kaitila I
Nat Genet; 1993 Apr; 3(4):338-41. PubMed ID: 7981754
[TBL] [Abstract][Full Text] [Related]
8. Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Viollet L; Zarhrate M; Maystadt I; Estournet-Mathiaut B; Barois A; Desguerre I; Mayer M; Chabrol B; LeHeup B; Cusin V; Billette De Villemeur T; Bonneau D; Saugier-Veber P; Touzery-De Villepin A; Delaubier A; Kaplan J; Jeanpierre M; Feingold J; Munnich A
Eur J Hum Genet; 2004 Jun; 12(6):483-8. PubMed ID: 15054395
[TBL] [Abstract][Full Text] [Related]
9. Evidence that a gene for essential tremor maps to chromosome 2p in four families.
Higgins JJ; Loveless JM; Jankovic J; Patel PI
Mov Disord; 1998 Nov; 13(6):972-7. PubMed ID: 9827627
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Clinical and genetic heterogeneity of hypochondroplasia.
Rousseau F; Bonaventure J; Legeai-Mallet L; Schmidt H; Weissenbach J; Maroteaux P; Munnich A; Le Merrer M
J Med Genet; 1996 Sep; 33(9):749-52. PubMed ID: 8880574
[TBL] [Abstract][Full Text] [Related]
12. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.
Hazan J; Lamy C; Melki J; Munnich A; de Recondo J; Weissenbach J
Nat Genet; 1993 Oct; 5(2):163-7. PubMed ID: 8252041
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
Rousseau F; Bonaventure J; Legeai-Mallet L; Pelet A; Rozet JM; Maroteaux P; Le Merrer M; Munnich A
Horm Res; 1996; 45(1-2):108-10. PubMed ID: 8742128
[TBL] [Abstract][Full Text] [Related]
15. Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia.
Pulst SM; Pribyl T; Barker DF; Riccardi VM; Ren M; Yaari H; Korenberg JR
Am J Med Genet; 1991 Jul; 40(1):84-7. PubMed ID: 1909491
[TBL] [Abstract][Full Text] [Related]
16. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3.
Shovlin CL; Hughes JM; Tuddenham EG; Temperley I; Perembelon YF; Scott J; Seidman CE; Seidman JG
Nat Genet; 1994 Feb; 6(2):205-9. PubMed ID: 8162076
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A locus for bipolar affective disorder on chromosome 4p.
Blackwood DH; He L; Morris SW; McLean A; Whitton C; Thomson M; Walker MT; Woodburn K; Sharp CM; Wright AF; Shibasaki Y; St Clair DM; Porteous DJ; Muir WJ
Nat Genet; 1996 Apr; 12(4):427-30. PubMed ID: 8630499
[TBL] [Abstract][Full Text] [Related]
19. Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.
Wolf MT; Zalewski I; Martin FC; Ruf R; Müller D; Hennies HC; Schwarz S; Panther F; Attanasio M; Acosta HG; Imm A; Lucke B; Utsch B; Otto E; Nurnberg P; Nieto VG; Hildebrandt F
Nephrol Dial Transplant; 2005 May; 20(5):909-14. PubMed ID: 15741201
[TBL] [Abstract][Full Text] [Related]
20. A genome screen of 35 bipolar affective disorder pedigrees provides significant evidence for a susceptibility locus on chromosome 15q25-26.
McAuley EZ; Blair IP; Liu Z; Fullerton JM; Scimone A; Van Herten M; Evans MR; Kirkby KC; Donald JA; Mitchell PB; Schofield PR
Mol Psychiatry; 2009 May; 14(5):492-500. PubMed ID: 18227837
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
