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Results: 1 to 20 of 101

1.

Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia.

Kato T, Matsumoto H, Chida A, Wakamatsu H, Nonoyama S.

Pediatr Int. 2013 Apr;55(2):254-6. doi: 10.1111/ped.12067. No abstract available.

PMID:
23421944
[PubMed - indexed for MEDLINE]
2.

Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.

Dutra EH, Chen IP, McGregor TL, Ranells JD, Reichenberger EJ.

Clin Genet. 2012 Jan;81(1):93-5. doi: 10.1111/j.1399-0004.2011.01700.x. No abstract available.

PMID:
22150416
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation.

Thomeer HG, Morava E, Verbist BM, Cremers CW.

Int J Pediatr Otorhinolaryngol. 2013 Jul;77(7):1152-7. doi: 10.1016/j.ijporl.2013.04.028. Epub 2013 May 31.

PMID:
23726953
[PubMed - indexed for MEDLINE]
4.

Dental abnormalities in a mouse model for craniometaphyseal dysplasia.

Dutra EH, Chen IP, Reichenberger EJ.

J Dent Res. 2013 Feb;92(2):173-9. doi: 10.1177/0022034512468157. Epub 2012 Nov 15.

PMID:
23160629
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Craniometaphyseal dysplasia in six generations of a German kindred.

Tinschert S, Braun HS.

Am J Med Genet. 1998 May 18;77(3):175-81.

PMID:
9605583
[PubMed - indexed for MEDLINE]
6.

A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).

Chen IP, Wang L, Jiang X, Aguila HL, Reichenberger EJ.

Hum Mol Genet. 2011 Mar 1;20(5):948-61. doi: 10.1093/hmg/ddq541. Epub 2010 Dec 13.

PMID:
21149338
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

Nürnberg P, Thiele H, Chandler D, Höhne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S.

Nat Genet. 2001 May;28(1):37-41.

PMID:
11326272
[PubMed - indexed for MEDLINE]
8.

Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome.

Mintz S, Velez I.

Dentomaxillofac Radiol. 2004 Jul;33(4):262-6. Review.

PMID:
15533982
[PubMed - indexed for MEDLINE]
9.

Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.

Baynam G, Goldblatt J, Schofield L.

Am J Med Genet A. 2009 Jun;149A(6):1331-3. doi: 10.1002/ajmg.a.32875. No abstract available.

PMID:
19449425
[PubMed - indexed for MEDLINE]
10.

[Craniometaphyseal dysplasia].

Spitzer W, Steinhäuser EW.

Dtsch Zahnarztl Z. 1981 Feb;36(2):96-100. German. No abstract available.

PMID:
6939583
[PubMed - indexed for MEDLINE]
11.

Craniometaphyseal dysplasia: a case report.

Lamazza L, Messina A, D'Ambrosio F, Spink M, De Biase A.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009 May;107(5):e23-7. doi: 10.1016/j.tripleo.2009.01.049.

PMID:
19426903
[PubMed - indexed for MEDLINE]
12.

Cardiopulmonary arrest caused by craniometaphyseal dysplasia.

Chida A, Yanagawa Y, Matsumoto H, Nonoyama S.

Indian J Pediatr. 2011 Aug;78(8):1010-2. doi: 10.1007/s12098-011-0374-4. Epub 2011 Feb 17.

PMID:
21328078
[PubMed - indexed for MEDLINE]
13.

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Höhne W, Tinschert S, Garaci FG, Dallapiccola B, Nürnberg P.

Am J Med Genet A. 2010 Apr;152A(4):870-4. doi: 10.1002/ajmg.a.33301.

PMID:
20358596
[PubMed - indexed for MEDLINE]
14.

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.

Zajac A, Baek SH, Salhab I, Radecki MA, Kim S, Hakonarson H, Nah HD.

Am J Med Genet A. 2010 Mar;152A(3):770-6. doi: 10.1002/ajmg.a.33317.

PMID:
20186813
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Craniometaphyseal dysplasia.

Kim YH, Roh DH, Choi BY, Oh SH.

Acta Otolaryngol. 2005 Jul;125(7):797-800.

PMID:
16012045
[PubMed - indexed for MEDLINE]
16.

Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.

Chen IP, Wang CJ, Strecker S, Koczon-Jaremko B, Boskey A, Reichenberger EJ.

J Bone Miner Res. 2009 Jul;24(7):1206-15. doi: 10.1359/jbmr.090218.

PMID:
19257826
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Enabling an unimpeded surgical approach to the skull base in patients with cranial hyperostosis, exemplarily demonstrated for craniometaphyseal dysplasia.

Juergens P, Ratia J, Beinemann J, Krol Z, Schicho K, Kunz C, Zeilhofer HF, Zimmerer S.

J Neurosurg. 2011 Sep;115(3):528-35. doi: 10.3171/2011.3.JNS101517. Epub 2011 Apr 15.

PMID:
21495823
[PubMed - indexed for MEDLINE]
18.

Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome.

Debeer P, De Borre L, De Smet L, Fryns JP.

Genet Couns. 2003;14(1):95-100.

PMID:
12725593
[PubMed - indexed for MEDLINE]
19.

Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia.

Chen IP, Fukuda K, Fusaki N, Iida A, Hasegawa M, Lichtler A, Reichenberger EJ.

Cell Reprogram. 2013 Dec;15(6):503-13. doi: 10.1089/cell.2013.0037. Epub 2013 Nov 12.

PMID:
24219578
[PubMed - indexed for MEDLINE]
20.

Intracranial hypertension in two cases of craniometaphyseal dysplasia: differing surgical options.

Rivero-Garvía M, Márquez-Rivas FJ, García-Iglesias A, Gutiérrez-González R.

Neurosurg Focus. 2011 Aug;31(2):E6. doi: 10.3171/2011.4.FOCUS1126.

PMID:
21806345
[PubMed - indexed for MEDLINE]

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