Results 251 to 260 of about 4,470,392 (361)

Cognitive and Emotional Functioning in Hypopituitary Short-statured Children [PDF]

, 1982
David Abbott, Diane Rotnem, Myron Genel, D J Cohen   +3 more
openalex   +1 more source

The Biodiversity Moonshot: A Spark for a Transformative Change or a New Business‐Case Facade?

Business Ethics, the Environment &Responsibility, EarlyView.
ABSTRACT Biodiversity has recently gained increased attention in sustainability management research. It sustains the ecosystems on which organizations depend, while simultaneously being threatened by organizational activities. By highlighting this dynamic of impact and dependence, the integration of biodiversity into management discourse offers an ...
Francesco Testa, Alberto Di Minin, Duccio Tosi, Valentina Cucino, Gianmaria Ontano, Michael V. Russo, Frederik Dahlmann, Subhabrata Bobby Banerjee, Andrea Stevenson Thorpe, Frank Figge, Philip Shapira, Kerrigan Marie Machado Unter, Judith Walls, Nicole Darnall, Adam McCarthy, Priscila Ferri, Claire Holland, Jacopo Cricchio   +17 more
wiley   +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

Homo sapiens, industrialisation and the environmental mismatch hypothesis

Biological Reviews, EarlyView.
ABSTRACT For the vast majority of the evolutionary history of Homo sapiens, a range of natural environments defined the parameters within which selection shaped human biology. Although human‐induced alterations to the terrestrial biosphere have been evident for over 10,000 years, the pace and scale of change has accelerated dramatically since the onset
Daniel P. Longman, Colin N. Shaw
wiley   +1 more source

Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN -Related Short Stature. [PDF]

Clin Genet
Shalev-Goldman E, Asaly A, Ityel H, Pode-Shakked B, Modan-Moses D, Levy-Shraga Y.   +5 more
europepmc   +1 more source

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia

Clinical Genetics, EarlyView.
Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong, Kwan Chun Ho, Zhijia Tan, Yanni He, Yapeng Zhou, Shijie Yin, Lin Feng, Janus Siu Him Wong, Michael Kai Tsun To   +8 more
wiley   +1 more source

Supplementary Material for: Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects

, 2020
Sjoerd D. Joustra, Gerdine A. Kamp, Susanne E. Stalman, Stephany Donze, Monique Losekoot, Sarina G. Kant, C. DeBruin, Wilma Oostdijk, Jan M. Wit   +8 more
openalex   +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

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

Comparison of children with bioinactive growth hormone, small for gestational age, and idiopathic short stature. [PDF]

Front Endocrinol (Lausanne)
Özdemir EK, Döğer E, Çamurdan MO, Bideci A.   +3 more
europepmc   +1 more source