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Results: 10

Cited In for PubMed (Select 7224657)


A Case of IFAP Syndrome with Severe Atopic Dermatitis.

Araújo C, Gonçalves-Rocha M, Resende C, Vieira AP, Brito C.

Case Rep Med. 2015;2015:450937. doi: 10.1155/2015/450937. Epub 2015 Jan 21.


Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.

Ogawa Y, Takeichi T, Kono M, Hamajima N, Yamamoto T, Sugiura K, Akiyama M.

PLoS Genet. 2014 May 1;10(5):e1004276. doi: 10.1371/journal.pgen.1004276. eCollection 2014 May.


Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome.

Derelioglu SS, Yılmaz Y, Keles S.

Case Rep Dent. 2013;2013:618468. doi: 10.1155/2013/618468. Epub 2013 Sep 18.


Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.

Wonkam A, Noubiap JJ, Bosch J, Dandara C, Toure GB.

BMC Med Genet. 2013 Aug 7;14:81. doi: 10.1186/1471-2350-14-81.


The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.

Mhaske PV, Levit NA, Li L, Wang HZ, Lee JR, Shuja Z, Brink PR, White TW.

Am J Physiol Cell Physiol. 2013 Jun 15;304(12):C1150-8. doi: 10.1152/ajpcell.00374.2012. Epub 2013 Feb 27.


Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder.

Shanker V, Gupta M, Prashar A.

Indian Dermatol Online J. 2012 Jan;3(1):48-50. doi: 10.4103/2229-5178.93505.


Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?

Fozza C, Poddie F, Contini S, Galleu A, Cottoni F, Longinotti M, Cucca F.

Case Rep Hematol. 2011;2011:848461. doi: 10.1155/2011/848461. Epub 2011 Aug 10.


Madarosis: a marker of many maladies.

Kumar A, Karthikeyan K.

Int J Trichology. 2012 Jan;4(1):3-18. doi: 10.4103/0974-7753.96079.


Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed.

Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, Mellersh CS.

PLoS Genet. 2012 Jan;8(1):e1002462. doi: 10.1371/journal.pgen.1002462. Epub 2012 Jan 12.


Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.

Shashi V, Zunich J, Kelly TE, Fryburg JS.

J Med Genet. 1995 Jun;32(6):465-9. Review.

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