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Results: 17

1.

Clinical course and implications of congenital nasal pyriform stenosis and solitary median maxillary central incisor in a newborn: a case report.

Günther L, Sari-Rieger A, Jablonka K, Rustemeyer J.

J Med Case Rep. 2014 Jun 20;8:215. doi: 10.1186/1752-1947-8-215.

PMID:
24950703
[PubMed - in process]
Free PMC Article
2.

A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome.

Babu TA, Chandrasekaran V, Balachandran S.

Indian J Hum Genet. 2012 Sep;18(3):366-8. doi: 10.4103/0971-6866.108047.

PMID:
23716951
[PubMed]
Free PMC Article
3.

Expression of SHH signaling molecules in the developing human primary dentition.

Hu X, Zhang S, Chen G, Lin C, Huang Z, Chen Y, Zhang Y.

BMC Dev Biol. 2013 Apr 8;13:11. doi: 10.1186/1471-213X-13-11.

PMID:
23566240
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.

Flemming GM, Klammt J, Ambler G, Bao Y, Blum WF, Cowell C, Donaghue K, Howard N, Kumar A, Sanchez J, Stobbe H, Pfäffle RW.

J Clin Endocrinol Metab. 2013 Mar;98(3):E567-75. doi: 10.1210/jc.2012-3224. Epub 2013 Feb 13.

PMID:
23408573
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Dental approach to craniofacial syndromes: how can developmental fields show us a new way to understand pathogenesis?

Kjær I.

Int J Dent. 2012;2012:145749. doi: 10.1155/2012/145749. Epub 2012 Oct 2.

PMID:
23091490
[PubMed]
Free PMC Article
6.

Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature.

Utreja A, Zahid SN, Gupta R.

Contemp Clin Dent. 2011 Oct;2(4):385-9. doi: 10.4103/0976-237X.91810.

PMID:
22346174
[PubMed]
Free PMC Article
7.

Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.

Roessler E, Vélez JI, Zhou N, Muenke M.

Mol Genet Metab. 2012 Apr;105(4):658-64. doi: 10.1016/j.ymgme.2012.01.005. Epub 2012 Jan 12.

PMID:
22310223
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Hedgehog signaling is required at multiple stages of zebrafish tooth development.

Jackman WR, Yoo JJ, Stock DW.

BMC Dev Biol. 2010 Nov 30;10:119. doi: 10.1186/1471-213X-10-119.

PMID:
21118524
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J.

Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9.

PMID:
20531442
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.

Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M.

Hum Genet. 2010 Mar;127(5):555-61. doi: 10.1007/s00439-010-0797-4. Epub 2010 Feb 16.

PMID:
20157829
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Alvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V, Muenke M.

Hum Mutat. 2009 Oct;30(10):E921-35. doi: 10.1002/humu.21090.

PMID:
19603532
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum.

Schell-Apacik CC, Ertl-Wagner B, Panzel A, Klausener K, Rausch G, Muenke M, von Voss H, Hehr U.

Am J Med Genet A. 2009 Jul;149A(7):1592-4. doi: 10.1002/ajmg.a.32940. No abstract available.

PMID:
19533790
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Current knowledge of tooth development: patterning and mineralization of the murine dentition.

Catón J, Tucker AS.

J Anat. 2009 Apr;214(4):502-15. doi: 10.1111/j.1469-7580.2008.01014.x. Review.

PMID:
19422427
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.

Singh S, Tokhunts R, Baubet V, Goetz JA, Huang ZJ, Schilling NS, Black KE, MacKenzie TA, Dahmane N, Robbins DJ.

Hum Genet. 2009 Feb;125(1):95-103. doi: 10.1007/s00439-008-0599-0. Epub 2008 Dec 5.

PMID:
19057928
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Solitary median maxillary central incisor (SMMCI) syndrome.

Hall RK.

Orphanet J Rare Dis. 2006 Apr 9;1:12. Review.

PMID:
16722608
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Sonic hedgehog.

Heussler HS, Suri M.

Mol Pathol. 2003 Jun;56(3):129-31. No abstract available.

PMID:
12782757
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Ming JE, Muenke M.

Am J Hum Genet. 2002 Nov;71(5):1017-32. Epub 2002 Oct 22. Review. No abstract available.

PMID:
12395298
[PubMed - indexed for MEDLINE]
Free PMC Article

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