Results 111 to 120 of about 3,414,711 (270)

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature

Journal of Genetic Engineering and Biotechnology
Background: Spondyloepimetaphyseal dysplasias (SEMD) are a large group of skeletal disorders represented by abnormalities of vertebrae in addition to epiphyseal and metaphyseal areas of bones. Several genes have been identified underlying different forms.
Hoda A. Ahmed, R. Elhossini, M. Aglan, Khalda Amr   +3 more
doaj   +1 more source

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Familial Xp22.33‐Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature

, 2012
Patients with Xp deletions have short stature and may have some somatic traits typical of Turner syndrome (TS), whereas gonadal function is generally preserved.
Dong‐Kyu Jin, Sung Yoon Cho, Jang, JH, Young Bae Sohn, Kim, SH, Cho, SY, Kim, SJ, Sohn, YB, Ja‐Hyun Jang, Su Jin Kim, Ki, CS, Jin, DK, Park, SW, Chang‐Seok Ki, Sung Won Park, Se Hwa Kim   +15 more
core   +1 more source

Past, present and future of local crop evolution

PLANTS, PEOPLE, PLANET, EarlyView.
Promoting agrobiodiversity is a promising strategy for mitigating the negative effects of climate change on global food security. We highlight the central role evolutionary processes play in harnessing the potential of local crops by integrating genomics, archaeology, ethnobotany and traditional ecological knowledge (TEK).
Nataly Allasi Canales, Philippa Ryan, Amy Jackson, Hong Phuong Le, James Borrell, Aaron Davis, Rafal M. Gutaker   +6 more
wiley   +1 more source

Comparing the effect of letrozole on the growth of boys aged 12–16 years with constitutional short stature: A clinical randomized trial study

International Journal of Pediatrics & Adolescent Medicine
Objectives This study aimed to compare the effect of letrozole on the height of boys aged 12–16 years with constitutional short stature after the onset of the third stage of puberty.
Ali Homaei, Alireza Razzaghi, Maryam Shamsi, Zahra Safari, Fatemeh Saffari   +4 more
doaj   +1 more source

Peri‐urban agroforestry for climate mitigation in West Africa: Structural diversity and functional traits as key drivers of carbon storage

PLANTS, PEOPLE, PLANET, EarlyView.
Peri‐urban areas in West Africa are expanding rapidly, often with limited planning and growing exposure to climate risks. Our study shows that agroforestry systems in these landscapes, especially diverse home gardens, can store substantial amounts of carbon when they include structurally complex stands and species with traits that favor biomass ...
Sèdoami Flora Dogbo, Kolawolé Valère Salako, Sylvanus Mensah, Gafarou Agoundé, Kangbéni Dimobe, Achille Ephrem Assogbadjo, Jens Gebauer, Constant Yves Adou Yao, Romain Glèlè Kakaï   +8 more
wiley   +1 more source

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis

, 2018
Abdulaziz Alsemari,1 Mohanned Alsuhaibani,2 Rawabi Alhathlool,1 Bayan Mamdouh Ali1 1Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; 2Department of Radiology, King Faisal Specialist Hospital and ...
Ali BM, Alsemari A, Alsuhaibani M, Alhathlool R   +3 more
core  

Familial Idiopathic Short Stature [PDF]

, 2020
openaire   +1 more source

Approach to Growth and Short Stature in Family Medicine Practice

Introduction: In family medicine practice, the correct definition of normal growth, frequency of follow-up and short stature enables the correct cases to be referred to pediatric endocrinology clinics (Nichols, 2025). This study aims to evaluate the approaches of family physicians to normal growth and short stature.
Eviz, Elif, Oz, Abdurrahman
openaire   +1 more source