Results 121 to 130 of about 1,144,906 (160)

Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang.

Hum Hered
Li Y, Cao C, Luo Y, Sun G, Baoerhan R, Julaiti D, Li J, Shen Y, Maimaiti M.   +8 more
europepmc   +1 more source

Clouston, H. W.

, 2017
Clouston, H. W.
core  

Negative Pressure Dressings to Prevent Surgical Site Infection After Emergency Laparotomy: The SUNRRISE Randomized Clinical Trial.

JAMA
SUNRRISE Trial Study Group, Atherton K, Brown J, Clouston H, Coe P, Duarte R, Dudi-Venkata NN, Duff S, Egoroff N, Fish R, Glasbey J, Ives N, Kaur M, Magill L, Mehta S, Pinkney T, Pockney P, Richards T, Sammour T, Sekhar H, Sinha Y, Stott M, Wilkin R.   +22 more
europepmc   +1 more source

Syndromes Associated with Hair Disorders.

Int J Trichology
Shah MM, Dhanani S, Nair PA.
europepmc   +1 more source

The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice [PDF]

FEBS Letters, 2014
Distinct mutations in the gap junction protein connexin30 (Cx30) can cause the ectodermal dysplasia Clouston syndrome in humans. We have generated a new mouse line expressing the Clouston syndrome mutation Cx30A88V under the control of the endogenous ...
Strenzke, Nicola
exaly   +3 more sources

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Clouston Syndrome and Eccrine Syringofibroadenomas

American Journal of Dermatopathology, 2009
Clouston syndrome and eccrine syringofibroadenoma are uncommon disorders that have been reported together rarely and only before the discovery of the GJB6 gene for Clouston syndrome. This case reports eccrine syringofibroadenoma in a patient with genetically confirmed Clouston syndrome.
Tasneem, Poonawalla, Ling, Xia, Stella, Patten, Erik J, Stratman   +3 more
exaly   +4 more sources

Clouston's Syndrome—A Case Report

Indian Journal of Mednodent and Allied Sciences, 2014
Clouston's syndrome or Hidrotic ectodermal dysplasia is an autosomal-dominant inherited rare ectodermal dysplastic disorder characterized by triad of nail dystrophy, palmoplantar keratoderma, and alopecia. Here we present a case report of clouston syndrome with classical triad along with hypodontia, microdontia and severe mental retardation.
Praveena Thiriveedhi, Masthan Sahib, M Madhavi Latha   +2 more
exaly   +2 more sources

A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED)

American Journal of Medical Genetics, Part A, 2001
This paper presents a biographical sketch of Dr. H. R. Clouston, whose eponym is attached to a type of hidrotic ectodermal dystrophy, and a brief account of the mapping of the gene and its identification as the connexin gene, GJB6.
F C, Fraser, V M, Der Kaloustian
exaly   +3 more sources