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Results: 1 to 20 of 46

PubMed Links for Books (Select 1498636)

1.

Future developments in XLHED treatment approaches.

Huttner K.

Am J Med Genet A. 2014 Oct;164A(10):2433-6. doi: 10.1002/ajmg.a.36499. Epub 2014 Mar 26. Review.

PMID:
24678015
2.

X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry.

Fete M, Hermann J, Behrens J, Huttner KM.

Am J Med Genet A. 2014 Oct;164A(10):2437-42. doi: 10.1002/ajmg.a.36436. Epub 2014 Mar 24. Review.

PMID:
24664614
3.

Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.

Jones KB, Goodwin AF, Landan M, Seidel K, Tran DK, Hogue J, Chavez M, Fete M, Yu W, Hussein T, Johnson R, Huttner K, Jheon AH, Klein OD.

Am J Med Genet A. 2013 Jul;161A(7):1585-93. doi: 10.1002/ajmg.a.35959. Epub 2013 May 17.

4.

Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.

Dietz J, Kaercher T, Schneider AT, Zimmermann T, Huttner K, Johnson R, Schneider H.

Eur J Pediatr. 2013 Aug;172(8):1023-31. doi: 10.1007/s00431-013-1985-8. Epub 2013 Apr 4.

PMID:
23553579
5.

Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia.

Lee HE, Chang IK, Im M, Seo YJ, Lee JH, Lee Y.

J Am Acad Dermatol. 2013 Apr;68(4):e139-40. doi: 10.1016/j.jaad.2012.10.019. No abstract available.

PMID:
23522427
6.

Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.

Haghighi A, Nikuei P, Haghighi-Kakhki H, Saleh-Gohari N, Baghestani S, Krawitz PM, Hecht J, Mundlos S.

Br J Dermatol. 2013 Jun;168(6):1353-6. doi: 10.1111/bjd.12151. No abstract available.

PMID:
23210707
7.

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.

Bergendal B, Klar J, Stecksén-Blicks C, Norderyd J, Dahl N.

Am J Med Genet A. 2011 Jul;155A(7):1616-22. doi: 10.1002/ajmg.a.34045. Epub 2011 May 27.

PMID:
21626677
8.

Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations.

Zhang J, Han D, Song S, Wang Y, Zhao H, Pan S, Bai B, Feng H.

Eur J Med Genet. 2011 Jul-Aug;54(4):e377-82. doi: 10.1016/j.ejmg.2011.03.005. Epub 2011 Mar 30.

PMID:
21457804
9.

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.

Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A.

J Med Genet. 2011 Jun;48(6):426-32. doi: 10.1136/jmg.2010.084012. Epub 2011 Feb 26.

PMID:
21357618
10.

Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.

Castori M, Castiglia D, Brancati F, Foglio M, Heath S, Floriddia G, Madonna S, Fischer J, Zambruno G.

Clin Genet. 2011 Jan;79(1):92-5. doi: 10.1111/j.1399-0004.2010.01513.x. No abstract available.

PMID:
21143469
11.

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A.

Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.

PMID:
20979233
12.

Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy.

Blüschke G, Nüsken KD, Schneider H.

Early Hum Dev. 2010 Jul;86(7):397-9. doi: 10.1016/j.earlhumdev.2010.04.008. Epub 2010 Jun 1.

PMID:
20682465
13.

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.

Nagy N, Wedgeworth E, Hamada T, White JM, Hashimoto T, McGrath JA.

J Dermatol Sci. 2010 Jun;58(3):220-2. doi: 10.1016/j.jdermsci.2010.03.012. Epub 2010 Mar 23. No abstract available.

PMID:
20418069
14.

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.

Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P.

Br J Dermatol. 2010 May;162(5):1044-8. doi: 10.1111/j.1365-2133.2010.09670.x. Epub 2010 Mar 5.

PMID:
20222921
15.

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Röpke A.

Am J Hum Genet. 2009 Jul;85(1):97-105. doi: 10.1016/j.ajhg.2009.06.001. Epub 2009 Jun 25.

16.

Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.

Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G.

Acta Derm Venereol. 2008;88(6):607-12. doi: 10.2340/00015555-0547. Review.

17.

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.

Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A.

Am J Med Genet A. 2008 Oct 15;146A(20):2657-62. doi: 10.1002/ajmg.a.32509.

PMID:
18816645
18.

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.

Rasool M, Schuster J, Aslam M, Tariq M, Ahmad I, Ali A, Entesarian M, Dahl N, Baig SM.

J Hum Genet. 2008;53(10):894-8. doi: 10.1007/s10038-008-0323-x. Epub 2008 Aug 9.

PMID:
18688569
19.

Perceptions of outcomes of implant therapy in patients with ectodermal dysplasia syndromes.

Stanford CM, Guckes A, Fete M, Srun S, Richter MK.

Int J Prosthodont. 2008 May-Jun;21(3):195-200.

PMID:
18548955
20.

X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.

Lexner MO, Bardow A, Juncker I, Jensen LG, Almer L, Kreiborg S, Hertz JM.

Clin Genet. 2008 Sep;74(3):252-9. doi: 10.1111/j.1399-0004.2008.01037.x. Epub 2008 May 28.

PMID:
18510547
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