160 related articles for article (PubMed ID: 12774041)
1. Mutations in PAX1 may be associated with Klippel-Feil syndrome.
McGaughran JM; Oates A; Donnai D; Read AP; Tassabehji M
Eur J Hum Genet; 2003 Jun; 11(6):468-74. PubMed ID: 12774041
[TBL] [Abstract][Full Text] [Related]
2. Human PAX gene expression and development of the vertebral column.
Smith CA; Tuan RS
Clin Orthop Relat Res; 1994 May; (302):241-50. PubMed ID: 7909508
[TBL] [Abstract][Full Text] [Related]
3. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
Tassabehji M; Fang ZM; Hilton EN; McGaughran J; Zhao Z; de Bock CE; Howard E; Malass M; Donnai D; Diwan A; Manson FD; Murrell D; Clarke RA
Hum Mutat; 2008 Aug; 29(8):1017-27. PubMed ID: 18425797
[TBL] [Abstract][Full Text] [Related]
4. Testing for genetic associations with the PAX gene family in a spina bifida population.
Volcik KA; Blanton SH; Kruzel MC; Townsend IT; Tyerman GH; Mier RJ; Northrup H
Am J Med Genet; 2002 Jul; 110(3):195-202. PubMed ID: 12116225
[TBL] [Abstract][Full Text] [Related]
5. Characterization of a novel insertional mouse mutation, kkt: A closely linked modifier of Pax1.
Bialek P; Chan CT; Yee SP
Dev Biol; 2000 Feb; 218(2):354-66. PubMed ID: 10656775
[TBL] [Abstract][Full Text] [Related]
6. Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1.
Neubüser A; Koseki H; Balling R
Dev Biol; 1995 Aug; 170(2):701-16. PubMed ID: 7649395
[TBL] [Abstract][Full Text] [Related]
7. An analysis of PAX1 in the development of vertebral malformations.
Giampietro PF; Raggio CL; Reynolds CE; Shukla SK; McPherson E; Ghebranious N; Jacobsen FS; Kumar V; Faciszewski T; Pauli RM; Rasmussen K; Burmester JK; Zaleski C; Merchant S; David D; Weber JL; Glurich I; Blank RD
Clin Genet; 2005 Nov; 68(5):448-53. PubMed ID: 16207213
[TBL] [Abstract][Full Text] [Related]
8. Cooperation of Hoxa5 and Pax1 genes during formation of the pectoral girdle.
Aubin J; Lemieux M; Moreau J; Lapointe J; Jeannotte L
Dev Biol; 2002 Apr; 244(1):96-113. PubMed ID: 11900462
[TBL] [Abstract][Full Text] [Related]
9. A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects.
Stegmann K; Boecker J; Richter B; Capra V; Finnell RH; Ngo ET; Strehl E; Ermert A; Koch MC
Teratology; 2001 May; 63(5):167-75. PubMed ID: 11320527
[TBL] [Abstract][Full Text] [Related]
10. The undulated mouse and the development of the vertebral column. Is there a human PAX-1 homologue?
Balling R
Clin Dysmorphol; 1994 Jul; 3(3):185-91. PubMed ID: 7981852
[TBL] [Abstract][Full Text] [Related]
11. A genetic linkage map of mouse chromosome 2 extending from thrombospondin to paired box gene 1, including the H3 minor histocompatibility complex.
Zuberi AR; Nguyen HQ; Auman HJ; Taylor BA; Roopenian DC
Genomics; 1996 Apr; 33(1):75-84. PubMed ID: 8617512
[TBL] [Abstract][Full Text] [Related]
12. undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structures.
Dietrich S; Gruss P
Dev Biol; 1995 Feb; 167(2):529-48. PubMed ID: 7875377
[TBL] [Abstract][Full Text] [Related]
13. Pax genes and organogenesis.
Dahl E; Koseki H; Balling R
Bioessays; 1997 Sep; 19(9):755-65. PubMed ID: 9297966
[TBL] [Abstract][Full Text] [Related]
14. Mutation screening of HSF4 in 150 age-related cataract patients.
Shi Y; Shi X; Jin Y; Miao A; Bu L; He J; Jiang H; Lu Y; Kong X; Hu L
Mol Vis; 2008; 14():1850-5. PubMed ID: 18941546
[TBL] [Abstract][Full Text] [Related]
15. Genetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.
Xu N; Hung KL; Gong X; Fan D; Tian Y; Yan M; Wei Y; Wang S
Orphanet J Rare Dis; 2024 Apr; 19(1):141. PubMed ID: 38561822
[TBL] [Abstract][Full Text] [Related]
16. Altered regulation of platelet-derived growth factor receptor-alpha gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins.
Joosten PH; Hol FA; van Beersum SE; Peters H; Hamel BC; Afink GB; van Zoelen EJ; Mariman EC
Proc Natl Acad Sci U S A; 1998 Nov; 95(24):14459-63. PubMed ID: 9826722
[TBL] [Abstract][Full Text] [Related]
17. The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
Li Z; Zhao S; Cai S; Zhang Y; Wang L; Niu Y; Li X; Hu J; Chen J; Wang S; Wang H; Liu G; Tian Y; Wu Z; Zhang TJ; ; Wang Y; Wu N
BMC Musculoskelet Disord; 2020 Apr; 21(1):220. PubMed ID: 32278351
[TBL] [Abstract][Full Text] [Related]
18. Klippel-Feil syndrome: clinical features and current understanding of etiology.
Tracy MR; Dormans JP; Kusumi K
Clin Orthop Relat Res; 2004 Jul; (424):183-90. PubMed ID: 15241163
[TBL] [Abstract][Full Text] [Related]
19. Pax: gene regulators in the developing nervous system.
Chalepakis G; Stoykova A; Wijnholds J; Tremblay P; Gruss P
J Neurobiol; 1993 Oct; 24(10):1367-84. PubMed ID: 8228963
[TBL] [Abstract][Full Text] [Related]
20. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
Hol FA; Geurds MP; Chatkupt S; Shugart YY; Balling R; Schrander-Stumpel CT; Johnson WG; Hamel BC; Mariman EC
J Med Genet; 1996 Aug; 33(8):655-60. PubMed ID: 8863157
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
