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Items: 1 to 20 of 695

1.

NEMO Links Nuclear Factor-κB to Human Diseases.

Maubach G, 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
2.

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
3.

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
4.

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
5.

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
6.

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.

7.

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
8.

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
9.

Orbital Imaging Manifestations of Neurocutaneous Syndromes Revisited.

Das A, Sharma S.

Curr Probl Diagn Radiol. 2018 Jan - Feb;47(1):61-67. doi: 10.1067/j.cpradiol.2016.12.011. Epub 2016 Dec 30. Review.

PMID:
28215521
10.

Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

Hassed S, Li S, Mulvihill J, Aston C, Palmer S.

Am J Med Genet A. 2017 Mar;173(3):790-800. doi: 10.1002/ajmg.a.37889. Epub 2017 Feb 4. Review.

PMID:
28160419
11.

[What's new in pediatric dermatology?]

Léauté-Labrèze C.

Ann Dermatol Venereol. 2016 Dec;143 Suppl 3:S29-S36. doi: 10.1016/S0151-9638(18)30047-4. Review. French.

PMID:
29429507
12.

Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

Pierpont EI, Semrud-Clikeman M, Pierpont ME.

Am J Med Genet A. 2017 Feb;173(2):452-459. doi: 10.1002/ajmg.a.38044. Epub 2016 Nov 14. Review.

PMID:
27862862
13.

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

Kasparis C, Reid D, Wilson NJ, Okur V, Cole C, Hansen CD, Bosse K, Betz RC, Khan M, Smith FJ.

Clin Exp Dermatol. 2016 Dec;41(8):884-889. doi: 10.1111/ced.12934. Epub 2016 Oct 27. Review.

14.

Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.

O'Kane AM, Jackson CP, Mahadevan M, Barber C.

J Laryngol Otol. 2017 Jul;131(S2):S53-S56. doi: 10.1017/S0022215116008264. Epub 2016 Oct 20. Review.

PMID:
27762179
15.

[Indications of the expansion in pediatric surgery. Experience of 30years and literature review].

Duquennoy-Martinot V, Depoortère C, Deveaux C, Capon A, Abdelwahab O, François C, Guerreschi P.

Ann Chir Plast Esthet. 2016 Oct;61(5):740-749. doi: 10.1016/j.anplas.2016.06.008. Epub 2016 Aug 8. Review. French.

PMID:
27423935
16.

NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature.

Shi C, Wang F, Tong A, Zhang XQ, Song HM, Liu ZY, Lyu W, Liu YH, Xia WB.

Medicine (Baltimore). 2016 Oct;95(40):e5081. Review.

17.

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.

Mary L, Scheidecker S, Kohler M, Lombardi MP, Delezoide AL, Auberger E, Triau S, Colin E, Gerard M, Grzeschik KH, Dollfus H, Antal MC.

Am J Med Genet A. 2017 Feb;173(2):479-486. doi: 10.1002/ajmg.a.37974. Epub 2016 Sep 13. Review. Erratum in: Am J Med Genet A. 2017 Jun;173(6):1722-1724.

PMID:
27623003
18.

Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis.

Wataya-Kaneda M.

Curr Probl Dermatol. 2016;51:42-9. doi: 10.1159/000446757. Epub 2016 Aug 30. Review.

PMID:
27584961
19.

Classification of Systemic and Localized Sweating Disorders.

Ohshima Y, Tamada Y.

Curr Probl Dermatol. 2016;51:7-10. doi: 10.1159/000446753. Epub 2016 Aug 30. Review.

PMID:
27584957
20.

Journey toward unraveling the molecular basis of hereditary hair disorders.

Shimomura Y.

J Dermatol Sci. 2016 Dec;84(3):232-238. doi: 10.1016/j.jdermsci.2016.08.006. Epub 2016 Aug 7. Review.

PMID:
27523806

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