Search Results - "Hamdoun, Elwaseila"

Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families by Hamdoun, Elwaseila, Karachunski, Peter, Nathan, Brandon, Fischer, Melissa, Torkelson, Jane L, Drilling, Amy, Petryk, Anna

“…Newborn screening has dramatically reduced rates of untreated congenital hypothyroidism (CH). However, in low-income nations where newborn screening programs…”
Get full text

Current Definition of Vitamin D Status Misclassifies Maladapted Children of First Generation African Immigrants to the Northern US by Hamdoun, Elwaseila

“…Skin pigmentation, vitamin D inactivation and genetic variation of vitamin D binding protein (DBP) are all essential mechanisms for adaptive vitamin D…”
Get full text

Next generation sequencing in endocrine practice by Forlenza, Gregory P., Calhoun, Amy, Beckman, Kenneth B., Halvorsen, Tanya, Hamdoun, Elwaseila, Zierhut, Heather, Sarafoglou, Kyriakie, Polgreen, Lynda E., Miller, Bradley S., Nathan, Brandon, Petryk, Anna

“…With the completion of the Human Genome Project and advances in genomic sequencing technologies, the use of clinical molecular diagnostics has grown…”
Get full text

Bilateral Mental Nerve Neuropathy in an Adolescent During Sickle Cell Crises by Hamdoun, Elwaseila, Davis, Lamar, McCrary, Sara Jane, Eklund, Neva Penton, Evans, Owen B.

“…Mental nerve neuropathy causes the “numb chin” syndrome and is usually associated with mandibular bone injury or disease in adults. It has been reported in…”
Get full text

Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention by Larrivée-Vanier, Stéphanie, Magne, Fabien, Hamdoun, Elwaseila, Petryk, Anna, Kibar, Zoha, Van Vliet, Guy, Deladoëy, Johnny

“…Abstract In 3 Somalian siblings with severe nongoitrous congenital hypothyroidism, exome sequencing identified a variant in TSHR predicted to be benign in…”
Get full text

Annual Conference 2014 Highlights: ISPAD 2014 by Wood, Jamie, Giani, Elisa, Harrington, Jennifer, Majidi, Shideh, Pais, Vanita, Nagl, Katrin, Hamdoun, Elwaseila, Hofer, Sabine

Get full text

Annual Conference 2014 Highlights by Wood, Jamie, Giani, Elisa, Harrington, Jennifer, Majidi, Shideh, Pais, Vanita, Nagl, Katrin, Hamdoun, Elwaseila, Hofer, Sabine

Get full text

Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention by Larrivée-Vanier, Stéphanie, Magne, Fabien, Hamdoun, Elwaseila, Petryk, Anna, Kibar, Zoha, Van Vliet, Guy, Deladoëy, Johnny

Get full text