Results 241 to 250 of about 4,480,801 (360)

Charting the growth of idiopathic short stature research: a 32-year bibliometric study of global advances. [PDF]

Front Endocrinol (Lausanne)
Wang Z, Gao Z, Huang Y, Li Z, Luo F, Li T, Zhang Y, Lin L, Wang S, Ye J.   +9 more
europepmc   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Short Stature Is an Independent Risk Factor for Ventilatory Inefficiency and Higher Mortality in ARDS. [PDF]

Am J Respir Crit Care Med
Monteiro AC, Bartek B, Tripathi S, Calfee CS, Matthay MA, Sinha P.   +5 more
europepmc   +1 more source

A genetic approach to evaluation of short stature of undetermined cause.

The Lancet Diabetes and Endocrinology, 2018
P. Murray, P. Clayton, S. Chernausek
semanticscholar   +1 more source

Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G

Clinical Genetics, EarlyView.
Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in‐frame deletions and a less severe phenotype.
Elena Botta, Heather Fawcett, Donata Orioli, Hiva Fassihi, Alan R. Lehmann   +4 more
wiley   +1 more source

Validation of Peak Growth Hormone Levels After Clonidine and Glucagon Stimulation Tests in Children With Severe Short Stature. [PDF]

Cureus
Subbiah S, Raja R, Shanmugam D, Palaniappan S, Shanmugam S, Aravind Kumar M.   +5 more
europepmc   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

A Novel Variant in <i>NR5A1</i> Resulting in Normosmic Hypogonadotropic Hypogonadism With Short Stature. [PDF]

JCEM Case Rep
Shah S, Goswami S, Sengupta N, Baidya A, Nanda R, Basu R.   +5 more
europepmc   +1 more source

Supplementary Material for: Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment

, 2015
Christopher J. Child, G. Kalifa, C Jones, Judith L. Ross, Gudrun Rappold, Cliodhna Quigley, Alan G. Zimmermann, Gina Garding, Gordon B. Cutler, Werner Blum   +9 more
openalex   +1 more source

Short stature and the effect of human growth hormone: Guidelines for the care of people with spina bifida

, 2020
Joseph O’Neil, John S. Fuqua
openalex   +2 more sources