Results 81 to 90 of about 4,480,801 (360)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Analysis of A Case of Growth Retardation of Infants Caused By Maternal Medication During Lactation [PDF]

BIO Web of Conferences
Short stature in childhood and even adulthood mostly originates from infancy and young children. It has been reported that 30.7% of children start to experience short stature before 6 months of age, 32.3% of children start to experience short stature ...
Zhang Junhua
doaj   +1 more source

Are Men Cheaper Than Women? Insights From Walking Economy [PDF]

, 2012
ARE MEN CHEAPER THAN WOMEN? INSIGHTS FROM WALKING ECONOMY Nicole S. Schultz and Peter G. Weyand Southern Methodist University, Locomotor Performance Laboratory, Department of Applied Physiology and Wellness, Dallas, TX 75205 Introduction: The metabolic ...
Schultz, Nicole S, Weyand, Peter G
core   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Short stature and SHOX gene haploinsufficiency [PDF]

, 2014
Introdução: A haploinsuficiência do gene SHOX (short stature homeobox gene) é uma das causas genéticas mais frequentes de baixa estatura isolada ou familiar, cuja gravidade clínica pode ser muito variável.
Borges, T., Cardoso, H., Costa, M., Ferreira, S., Magalhães, J., Oliveira, M., Ribeiro, L., Rocha, M.   +7 more
core  

ACAN mutations as a cause of familial short stature

Clinical Pediatric Endocrinology, 2017
. Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role ...
S. Dateki
semanticscholar   +1 more source

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]

, 2013
Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, Lopez-Gonzalez, Vanesa, Malfait, Fransiska, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, Symoens, Sofie   +9 more
core   +2 more sources

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Aromatase Inhibitors in Male Adolescents with Idiopathic Short Stature [PDF]

, 2014
Introdução: O efeito dos fármacos inibidores da aromatase (IA) na estatura de jovens do sexo masculino com baixa estatura idiopática (BEI) tem vindo a ser estudado desde que foi evidenciado o papel dos estrogénios na paragem do crescimento linear.
Amaral, D, Fitas, AL, Lopes, L
core  

How useful is anthropometric history? [PDF]

, 2009
In his recent presidential address to the American Economic History Association, Paul Hohenberg argued that anthropometric history does not meet his criteria for useful research in the field of economic history.
Komlos, John
core   +2 more sources