Results 51 to 60 of about 69,264 (288)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Spatial and demographic disparities in short stature among school children aged 7–18 years: a nation-wide survey in China, 2014

BMJ Open, 2019
Objectives To identify spatial disparities and demographic characteristics of short stature, we analysed the prevalence of short stature collected in a nationwide health survey.Settings Data were obtained from the 2014 Chinese National Survey on Students
Jun Ma, Yanhui Dong, Zhaogeng Yang, Jia Ma, Tao Pei, Fen Dong, Sihui Guo, Qiuling Zhao, Shunan Wang, Zhixin Zhang   +9 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Contribution of VEGF polymorphism rs3025020 to short stature and hypertension in elderly Japanese individuals: a cross-sectional study

Journal of Physiological Anthropology, 2021
Background Recently, short stature has been revealed to be positively associated with hypertension, possibly because this indicates lower activity of vascular maintenance, such as angiogenesis.
Yuji Shimizu, Hirotomo Yamanashi, Shin-Ya Kawashiri, Kenichi Nobusue, Fumiaki Nonaka, Yuko Noguchi, Yukiko Honda, Kazuhiko Arima, Yasuyo Abe, Yasuhiro Nagata, Takahiro Maeda   +10 more
doaj   +1 more source

Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

, 2017
Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in ACAN, the gene encoding aggrecan, cause autosomal dominant short stature, accelerated skeletal maturation,
Witchel, S, Nilsson, Ola,, Thomas C. Markello, DeArment, D, Tatsi, C, Anenisia C. Andrade, Ola Nilsson, Tatsi, Christina,, Gkourogianni, Alexandra,, Mohnike, K, Alexandra Gkourogianni, Markello, Thomas C.,, Gkourogianni, A,, Witchel, Selma,, Andrade, AC, Selma Witchel, Andrade, Anenisia C.,, Baron, Jeffrey,, DeArment, Diana,, Youn Hee Jee, Markello, TC, Baron, J, Diana DeArment, Jee, YH, Christina Tatsi, Nilsson, O,, Mohnike, Klaus,, Jee, Youn Hee,, Jeffrey Baron, Klaus Mohnike   +29 more
core   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

The effects of short-stature-for-age on cardiovascular and metabolic health in children: a systematic review. [PDF]

, 2019
Short stature has been associated with coronary heart disease in adults (Paajanen et al, 2010), but similar effects have not been established in children.
Nina Mendez (7244117), Samantha Sanchez (7241132), Susana Monserrat-Revillo (1252428), Hugo Azcorra (503077), David Oxborough (7244114), Maria Ines Varela Silva (7238876), Emma ODonnell (1384770)   +6 more
core   +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

Approach to A Child with Short Stature

Apollo Medicine, 2007
PEDIATRICS is the science of the growing child, and it therefore is essential for every paediatrician to monitor and chart the growth of each child who is under one’s regular follow-up. Why? Because if the height gain is too slow, or too fast, and similarly if the weight gain is too slow or too fast, it can alert us to take action early.
openaire   +2 more sources