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Items: 1 to 20 of 117

1.

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

Parry DA, Logan CV, Stegmann AP, Abdelhamed ZA, Calder A, Khan S, Bonthron DT, Clowes V, Sheridan E, Ghali N, Chudley AE, Dobbie A, Stumpel CT, Johnson CA.

Am J Hum Genet. 2013 Dec 5;93(6):1135-42. doi: 10.1016/j.ajhg.2013.10.027. Epub 2013 Nov 27. Review.

2.
3.

Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.

ter Heide H, Bulstra SK, Reekers A, Schrander JJ, Schrander-Stumpel CT.

Am J Med Genet. 2002 Jul 15;110(4):359-64.

PMID:
12116210
4.

Goosecoid-like (Gscl), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development.

Saint-Jore B, Puech A, Heyer J, Lin Q, Raine C, Kucherlapati R, Skoultchi AI.

Hum Mol Genet. 1998 Nov;7(12):1841-9.

PMID:
9811927
5.

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Ucar SK, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F.

Hum Genet. 2014 Jan;133(1):29-39. doi: 10.1007/s00439-013-1351-y. Epub 2013 Aug 27.

PMID:
23982343
6.
7.

Goosecoid acts cell autonomously in mesenchyme-derived tissues during craniofacial development.

Rivera-Pérez JA, Wakamiya M, Behringer RR.

Development. 1999 Sep;126(17):3811-21.

8.

Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development.

Rivera-Pérez JA, Mallo M, Gendron-Maguire M, Gridley T, Behringer RR.

Development. 1995 Sep;121(9):3005-12.

9.

Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11.

Funke B, Saint-Jore B, Puech A, Sirotkin H, Edelmann L, Carlson C, Raft S, Pandita RK, Kucherlapati R, Skoultchi A, Morrow BE.

Genomics. 1997 Dec 15;46(3):364-72.

PMID:
9441739
10.

Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death.

Yamada G, Mansouri A, Torres M, Stuart ET, Blum M, Schultz M, De Robertis EM, Gruss P.

Development. 1995 Sep;121(9):2917-22.

11.

Middle ear defects associated with the double knock out mutation of murine goosecoid and Msx1 genes.

Kuratani S, Satokata I, Blum M, Komatsu Y, Haraguchi R, Nakamura S, Suzuki K, Kosai K, Maas R, Yamada G.

Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):589-99.

PMID:
10512191
12.

Short- and long-range functions of Goosecoid in zebrafish axis formation are independent of Chordin, Noggin 1 and Follistatin-like 1b.

Dixon Fox M, Bruce AE.

Development. 2009 May;136(10):1675-85. doi: 10.1242/dev.031161. Epub 2009 Apr 15.

13.
14.

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, van Haeringen A, Thiel CT, Ekici AB, Reis A, Rauch A.

Am J Med Genet A. 2013 Nov;161A(11):2880-9. doi: 10.1002/ajmg.a.36250. Epub 2013 Oct 3.

PMID:
24124006
15.

Nasal and pharyngeal abnormalities caused by the mouse goosecoid gene mutation.

Yamada G, Ueno K, Nakamura S, Hanamure Y, Yasui K, Uemura M, Eizuru Y, Mansouri A, Blum M, Sugimura K.

Biochem Biophys Res Commun. 1997 Apr 7;233(1):161-5.

PMID:
9144415
16.

Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome.

Köchling J, Karbasiyan M, Reis A.

Eur J Hum Genet. 2001 Aug;9(8):599-605.

17.

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.

Am J Hum Genet. 2006 Feb;78(2):303-14. Epub 2005 Dec 29.

18.
19.

Malformation of trachea and pelvic region in goosecoid mutant mice.

Zhu CC, Yamada G, Nakamura S, Terashi T, Schweickert A, Blum M.

Dev Dyn. 1998 Apr;211(4):374-81.

20.

Negative autoregulation of the organizer-specific homeobox gene goosecoid.

Danilov V, Blum M, Schweickert A, Campione M, Steinbeisser H.

J Biol Chem. 1998 Jan 2;273(1):627-35.

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