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Items: 1 to 20 of 158

1.

Dental implants in patients with ectodermal dysplasia: A systematic review.

Chrcanovic BR.

J Craniomaxillofac Surg. 2018 May 21. pii: S1010-5182(18)30286-5. doi: 10.1016/j.jcms.2018.05.038. [Epub ahead of print] Review.

PMID:
29884311
2.

Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review.

Schnabl D, Grunert I, Schmuth M, Kapferer-Seebacher I.

J Oral Rehabil. 2018 Jul;45(7):555-570. doi: 10.1111/joor.12638. Epub 2018 May 9. Review.

PMID:
29679503
3.

Cranioectodermal Dysplasia.

Arts H, Knoers N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Sep 12 [updated 2018 Apr 12].

4.

Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature.

Ma M, Ding ZL, Cheng ZQ, Wu G, Tang XY, Deng P, Wu JD.

World Neurosurg. 2018 Jun;114:76-83. doi: 10.1016/j.wneu.2018.02.007. Epub 2018 Mar 10. Review.

PMID:
29530698
5.

Approach to a Child with Primary Immunodeficiency Made Simple.

Sharma D, Jindal AK, Rawat A, Singh S.

Indian Dermatol Online J. 2017 Nov-Dec;8(6):391-405. doi: 10.4103/idoj.IDOJ_189_17. Review.

6.

NEMO Links Nuclear Factor-κB to Human Diseases.

Maubach G, Schmädicke AC, Naumann M.

Trends Mol Med. 2017 Dec;23(12):1138-1155. doi: 10.1016/j.molmed.2017.10.004. Epub 2017 Nov 8. Review. Erratum in: Trends Mol Med. 2018 Feb 15;:.

PMID:
29128367
7.

Master regulatory role of p63 in epidermal development and disease.

Soares E, Zhou H.

Cell Mol Life Sci. 2018 Apr;75(7):1179-1190. doi: 10.1007/s00018-017-2701-z. Epub 2017 Nov 4. Review.

8.

Abdominal Imaging Findings in Neurocutaneous Syndromes: Looking Below the Diaphragm.

Gosein M, Harris A, Pang E, Maharaj P, Chang S.

AJR Am J Roentgenol. 2017 Dec;209(6):1197-1208. doi: 10.2214/AJR.17.18404. Epub 2017 Oct 5. Review.

PMID:
28981355
9.

Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

Tortora D, Severino M, Accogli A, Martinetti C, Vercellino N, Capra V, Rossi A, Pavanello M.

World Neurosurg. 2017 Dec;108:291-302. doi: 10.1016/j.wneu.2017.08.176. Epub 2017 Sep 5. Review.

PMID:
28887276
10.

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

Antony D, Nampoory N, Bacchelli C, Melhem M, Wu K, James CT, Beales PL, Hubank M, Thomas D, Mashankar A, Behbehani K, Schmidts M, Alsmadi O.

Eur J Med Genet. 2017 Dec;60(12):658-666. doi: 10.1016/j.ejmg.2017.08.019. Epub 2017 Sep 12. Review.

PMID:
28870638
11.

Variations in herpes zoster manifestation.

Wollina U.

Indian J Med Res. 2017 Mar;145(3):294-298. doi: 10.4103/ijmr.IJMR_1622_16. Review.

12.

Encephalocraniocutaneous lipomatosis: A case report with review of literature.

Siddiqui S, Naaz S, Ahmad M, Khan ZA, Wahab S, Rashid BA.

Neuroradiol J. 2017 Dec;30(6):578-582. doi: 10.1177/1971400917693638. Epub 2017 Jul 14. Review.

PMID:
28707961
13.

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ.

J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561. Epub 2017 Jun 29. Review.

PMID:
28663233
14.

Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.

Boisson B, Puel A, Picard C, Casanova JL.

J Clin Immunol. 2017 Jul;37(5):397-412. doi: 10.1007/s10875-017-0400-z. Epub 2017 Jun 9. Review.

PMID:
28597146
15.

Hypohidrotic Ectodermal Dysplasia.

Wright JT, Grange DK, Fete M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Apr 28 [updated 2017 Jun 1].

16.

[Neuroimaging in epileptic encephalopathies in infants].

Lopez-Pino MA, Garcia-Esparza E.

Rev Neurol. 2017 May 17;64(s03):S61-S64. Review. Spanish.

17.

The developmental biology of genetic Notch disorders.

Mašek J, Andersson ER.

Development. 2017 May 15;144(10):1743-1763. doi: 10.1242/dev.148007. Review.

18.

Aplasia cutis congenita type V: a case report and review of the literature.

Perry BM, Maughan CB, Crosby MS, Hadenfeld SD.

Int J Dermatol. 2017 Jun;56(6):e118-e121. doi: 10.1111/ijd.13611. Epub 2017 May 8. Review.

PMID:
28480995
19.

Trichorhinophalangeal Syndrome.

Maas S, Shaw A, Bikker H, Hennekam RCM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2017 Apr 20.

20.

EOGT and O-GlcNAc on secreted and membrane proteins.

Varshney S, Stanley P.

Biochem Soc Trans. 2017 Apr 15;45(2):401-408. doi: 10.1042/BST20160165. Review.

PMID:
28408480

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