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Results: 1 to 20 of 87

1.

Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate.

Jochumsen U, Werner R, Miura N, Richter-Unruh A, Hiort O, Holterhus PM.

Sex Dev. 2008;2(6):302-8. doi: 10.1159/000195679. Epub 2009 Mar 10.

PMID:
19276632
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Altered binding of MYF-5 to FOXE1 promoter in non-syndromic and CHARGE-associated cleft palate.

Venza M, Visalli M, Venza I, Torino C, Tripodo B, Melita R, Teti D.

J Oral Pathol Med. 2009 Jan;38(1):18-23. doi: 10.1111/j.1600-0714.2008.00726.x.

PMID:
19192046
[PubMed - indexed for MEDLINE]
3.

Forkhead transcription factor Foxf2 (LUN)-deficient mice exhibit abnormal development of secondary palate.

Wang T, Tamakoshi T, Uezato T, Shu F, Kanzaki-Kato N, Fu Y, Koseki H, Yoshida N, Sugiyama T, Miura N.

Dev Biol. 2003 Jul 1;259(1):83-94.

PMID:
12812790
[PubMed - indexed for MEDLINE]
Free Article
4.

Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate.

Tonacchera M, Banco M, Lapi P, Di Cosmo C, Perri A, Montanelli L, Moschini L, Gatti G, Gandini D, Massei A, Agretti P, De Marco G, Vitti P, Chiovato L, Pinchera A.

Thyroid. 2004 Aug;14(8):584-8.

PMID:
15320969
[PubMed - indexed for MEDLINE]
5.

Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate.

Turhani D, Item CB, Watzinger E, Sinko K, Watzinger F, Lauer G, Ewers R.

J Craniomaxillofac Surg. 2005 Oct;33(5):301-6.

PMID:
16122939
[PubMed - indexed for MEDLINE]
6.

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Castanet M, Park SM, Smith A, Bost M, Léger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M.

Hum Mol Genet. 2002 Aug 15;11(17):2051-9.

PMID:
12165566
[PubMed - indexed for MEDLINE]
Free Article
7.

A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.

Pauws E, Moore GE, Stanier P.

J Med Genet. 2009 Aug;46(8):555-61. doi: 10.1136/jmg.2009.066902.

PMID:
19648124
[PubMed - indexed for MEDLINE]
8.

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.

Steiner B, Truninger K, Sanz J, Schaller A, Gallati S.

Hum Mutat. 2004 Aug;24(2):120-9.

PMID:
15241793
[PubMed - indexed for MEDLINE]
9.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
10.

The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.

Lee PL, Gelbart T, West C, Halloran C, Beutler E.

Blood Cells Mol Dis. 1998 Jun;24(2):199-215.

PMID:
9642100
[PubMed - indexed for MEDLINE]
11.

Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population.

Kanno K, Suzuki Y, Yang X, Yamada A, Aoki Y, Kure S, Matsubara Y.

J Hum Genet. 2002;47(6):269-74.

PMID:
12111375
[PubMed - indexed for MEDLINE]
12.

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).

Rinne T, Bolat E, Meijer R, Scheffer H, van Bokhoven H.

Am J Med Genet A. 2009 Sep;149A(9):1948-51. doi: 10.1002/ajmg.a.32793.

PMID:
19676060
[PubMed - indexed for MEDLINE]
13.

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.

Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, Daack-Hirsch S, Schultz RE, Weber A, Nepomucena B, Romitti PA, Christensen K, Orioli IM, Castilla EE, Machida J, Natsume N, Murray JC.

J Med Genet. 2003 Jun;40(6):399-407.

PMID:
12807959
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene.

Richter-Unruh A, Martens JW, Verhoef-Post M, Wessels HT, Kors WA, Sinnecker GH, Boehmer A, Drop SL, Toledo SP, Brunner HG, Themmen AP.

Clin Endocrinol (Oxf). 2002 Jan;56(1):103-12.

PMID:
11849253
[PubMed - indexed for MEDLINE]
15.

Mutations in MYOC gene of Indian primary open angle glaucoma patients.

Mukhopadhyay A, Acharya M, Mukherjee S, Ray J, Choudhury S, Khan M, Ray K.

Mol Vis. 2002 Nov 15;8:442-8.

PMID:
12447164
[PubMed - indexed for MEDLINE]
Free Article
16.

Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes.

Pegelow M, Peyrard-Janvid M, Zucchelli M, Fransson I, Larson O, Kere J, Larsson C, Karsten A.

Eur J Orthod. 2008 Apr;30(2):169-75. doi: 10.1093/ejo/cjm097. Epub 2008 Jan 21.

PMID:
18209213
[PubMed - indexed for MEDLINE]
Free Article
17.

Differences in the embryonic expression patterns of mouse Foxf1 and -2 match their distinct mutant phenotypes.

Ormestad M, Astorga J, Carlsson P.

Dev Dyn. 2004 Feb;229(2):328-33.

PMID:
14745957
[PubMed - indexed for MEDLINE]
Free Article
18.

Detection of mutations in the DNA polymerase delta gene of human sporadic colorectal cancers and colon cancer cell lines.

Flohr T, Dai JC, Büttner J, Popanda O, Hagmüller E, Thielmann HW.

Int J Cancer. 1999 Mar 15;80(6):919-29.

PMID:
10074927
[PubMed - indexed for MEDLINE]
19.

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W.

Hum Mutat. 2004 Nov;24(5):370-80.

PMID:
15459959
[PubMed - indexed for MEDLINE]
20.

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

Braybrook C, Lisgo S, Doudney K, Henderson D, Marçano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S.

Hum Mol Genet. 2002 Oct 15;11(22):2793-804.

PMID:
12374769
[PubMed - indexed for MEDLINE]
Free Article

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