Results 21 to 30 of about 207,125 (284)

Wolcott-Rallison Syndrome

open access: yesJournal of Indian Society of Pedodontics and Preventive Dentistry, 2012
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus.
A Juneja, A Sultan, S Bhatnagar
doaj   +1 more source

Over-expression of a chimeric gene of the transcriptional co-activator MBF1 fused to the EAR repressor motif causes developmental alteration in Arabidopsis and tomato [PDF]

open access: yes, 2008
Transcriptional co-activators of the Multiprotein Bridging Factor1 (MBF1) type belong to a multigenic family that encode key components of the machinery controlling gene expression by communicating between transcription factors and the basal ...
Bouzayen, Mondher   +8 more
core   +1 more source

Next-generation sequencing from bulked segregant analysis identifies a dwarfism gene in watermelon

open access: yesScientific Reports, 2018
Dwarfism is one of the most valuable traits in watermelon breeding mainly because of its contribution to yield as well as the decreased labor required to cultivate and harvest smaller plants. However, the underlying genetic mechanism is unknown.
W. Dong   +4 more
semanticscholar   +1 more source

Heterogeneity of a dwarf phenotype in Dutch traditional chicken breeds revealed by genomic analyses

open access: yesEvolutionary Applications, 2021
The growth of animals is a complex trait, in chicken resulting in a diverse variety of forms, caused by a heterogeneous genetic basis. Bantam chicken, known as an exquisite form of dwarfism, has been used for crossbreeding to create corresponding dwarf ...
Zhou Wu   +7 more
doaj   +1 more source

Emergency cesarean section for obstructed labor with intrauterine fetal death in an achondroplastic dwarf: a case report

open access: yesBali Journal of Anesthesiology, 2023
Though cesarean section is one of the most common surgeries performed in obstetrics, there is a lack of consensus on the anesthetic approach to the management of achondroplastic women during this surgery.
Julian Ojebo   +5 more
doaj   +1 more source

DNA repair: Disorders [PDF]

open access: yes, 2010
No description ...
Bose   +36 more
core   +1 more source

Beauty and ugliness as endocrine pathology: a look through the prism of history and art

open access: yesКлинический разбор в общей медицине, 2023
Throughout history, people have reacted differently to various physical abnormalities that develop in the absence of treatment and progression of diseases of the endocrine system. From antiquity until relatively recently, some manifestations of endocrine
Kseniya O. Samsonova
doaj   +1 more source

Growth Hormone Receptor Mutations Related to Individual Dwarfism

open access: yesInternational Journal of Molecular Sciences, 2018
Growth hormone (GH) promotes body growth by binding with two GH receptors (GHRs) at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin-like growth factor (IGF ...
Shudai Lin   +3 more
semanticscholar   +1 more source

Schwartz–jampel syndrome: Clinical and diagnostic phenotype of a rare genetic disorder

open access: yesArchives of Medicine and Health Sciences, 2016
The distinctive phenotypic, clinical, skeletal characteristics with the typical electrophysiological features of an 11-year-old male child who presented to the neurology outpatient service are described, with the objective of emphasizing the diagnostic ...
Bhaskara P Shelley, U S Vinayaka
doaj   +1 more source

The results of the survey among the parents of patients with achondroplasia on the role of vosoritide therapy

open access: yesГений oртопедии, 2021
Introduction Achondroplasia (ACP) is a common skeletal dysplasia. Vozoritide is the first drug that has an effect on the pathogenesis of impaired enchondral growth in achondroplasia.
Dmitry A. Popkov   +2 more
doaj   +1 more source

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