Results 221 to 230 of about 316,216 (289)

Association of Growth Hormone Adherence and Growth Outcomes in Paediatric Patients: Results From a Clinical Registry

Clinical Endocrinology, EarlyView.
ABSTRACT Objective Daily growth hormone (GH) therapy for growth disorders requires long‐term adherence. The aim of this study was to investigate the association of adherence with 2‐year growth outcomes in paediatric patients receiving daily GH therapy in a clinical registry. Design Retrospective cohort study. Patients Patients with growth disorder were
Tilman Robert Rohrer, Klaus Hartmann, Peter Herbert Kann, Tobias Vogelmann, Dorna Hogeabri, Tino Schubert   +5 more
wiley   +1 more source

Prediction of Stature From Percutaneous Anthropometric Dimensions of the Femur and Tibia Among Adult Nigerians. [PDF]

Cureus
Salawu AA, Ikpa JO, Raji-Salawu MO.
europepmc   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Editorial: Community series in gut microbiota and immunity in health and disease: dysbiosis and eubiosis's effects on the human body, volume II. [PDF]

Front Immunol
Wagh SK, Morre SA, Dodero VI.
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

Brachydactyly type A3 may be associated with shorter stature: An observation from a Chinese pediatric sample. [PDF]

PLoS One
Wu HH, Zhang YQ, Yu CD, Chen FF, Liu JT, Li SL, Zong XN.   +6 more
europepmc   +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

Efficacy and Safety of PEGylated Recombinant Human Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature: A Real-World Cohort Study. [PDF]

Int J Endocrinol
Ge L, Zhao C, Yang Y, Xu L, Sun M, Su Y, Xu F, Huang Q, Tao N.   +8 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