Results 101 to 110 of about 1,997,745 (357)

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations

Frontiers in Pediatrics
BackgroundCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder primarily caused by defects in adrenal steroidogenesis. Conventional genetic methods struggle to resolve complex structural variations and pseudogene interference in key ...
Junfeng Zeng, Junfeng Zeng, Xiaoling Huang, Xiaoling Huang, Yanwei Li, Tizhen Yan, Jiwu Lou, Guizhen Lyu, Yanjin Li, Yanjin Li   +9 more
doaj   +1 more source

Screening for hyperglycaemia in pregnancy : a rapid update for the National Screening Committee [PDF]

, 2010
Background Screening for gestational diabetes has long been a controversial topic. A previous Health Technology Assessment (HTA) report reviewed literature on screening for gestational diabetes mellitus (GDM) and assessed the case for screening against ...
P Royle, C Clar, Henderson, R., Cummins, E., N Waugh, Henderson, Rob, D Hadden, Royle, P., Clar, C., Lindsay, R. (Robert), Hadden, D. R., Cummins, E. (Ewen), HASH(0x55a67fd05ca0), E Cummins, Pearson, D., Waugh, Norman, Pearson, Donald, Hadden, D., R Henderson, Lindsay, R., D Pearson, Royle, Pamela, Waugh, N., R Lindsay   +23 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Relationship between increased maternal serum free human chorionic gonadotropin levels in the second trimester and adverse pregnancy outcomes: a retrospective cohort study

BMC Women's Health
Background A retrospective cohort study was conducted to collect the data of pregnant women who received hospital delivery in Hangzhou Women's Hospital from January 2018 to December 2020, and who participated in the second trimester (15–20+6 weeks) of ...
Yiming Chen, Xiaoqing Dai, Bin Wu, Chen Jiang, Yixuan Yin   +4 more
doaj   +1 more source

Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p–syndrome

Heliyon
Cri-du-chat syndrome (CDC, OMIM 123450) is a rare chromosomal syndrome that results from partial deletions on the short arm of chromosome 5, known as 5p minus. Substantial clinical and genetic heterogeneity were observed in CDC patients.
Yizhao Luan, Peng Li, Yuanyuan Luo, Hong Zhang, Xiaochun Zhu, Yan Zhang, Aihua Yin, Qiang Wu, Chengwei Chai   +8 more
doaj   +1 more source

Prenatal and newborn screening for hemoglobinopathies [PDF]

International Journal of Laboratory Hematology, 2013
SummaryThe hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha‐globin and beta‐globin genes. Increased immigration of high‐risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America.
openaire   +2 more sources

Incorporating DNA Sequencing into Current Prenatal Screening Practice for Down's Syndrome

, 2013
PMCID: PMC3604109This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
Jonathan P. Bestwick (130538), Wald, NJ, Bestwick, JP, Jonathan P Bestwick, Nicholas J Wald, Jonathan P. Bestwick, Wald Nicholas J., Nicholas J. Wald (130535), Nicholas J. Wald, Bestwick Jonathan P.   +9 more
core   +1 more source

Prenatal screening and diagnosis

, 2021
In the twentieth century, technological capacities to surveil and monitor pregnancies have expanded dramatically. Prenatal screening refers to systematic, population-wide efforts to identify health problems during the development of a fetus, while ...
Nete Schwennesen, Schwennesen, Nete, Gammeltoft, Tine M., Tine M. Gammeltoft   +3 more
core   +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