Results 211 to 220 of about 633,963 (350)

Garrod's Inborn Factors in Disease. By C.R. Scriver, B. Childs. Oxford Monographs in Medical Genetics No.16. Oxford University Press. 1989. 247 pages, £25.00. ISBN 0 19 261574 2. [PDF]

Genetical Research, 1989
openaire   +2 more sources

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson, L. Baxandall, D. Aiyedun, A. Li, P. Y. B. Au, J. M. Bain, M. A. Gillentine, H. Goel, A. D. Kline, C. L. Ricupero, R. Sánchez‐Carpintero, E. P. Seward, R. Sidlow, S. A. Wilson, M. Balasubramanian   +14 more
wiley   +1 more source

Prevalence of congenital heart defects in Europe, 2008–2015: A registry‐based study

Birth Defects Research, Volume 114, Issue 20, Page 1404-1416, December 1, 2022., 2022
Abstract Background The total prevalence of congenital heart defects (CHDs) varies by populations and over time. Studies that examine trends in the prevalence of CHD in different regions may shed light on our understanding of the occurrence of CHD and the impact of different risk factors.
Chrysovalanto Mamasoula, Marie‐Claude Addor, Clara Cavero Carbonell, Carlos M. Dias, Luis‐Javier Echevarría‐González‐de‐Garibay, Miriam Gatt, Babak Khoshnood, Kari Klungsoyr, Kay Randall, Sylvia Stoianova, Martin Haeusler, Vera Nelen, Amanda J. Neville, Isabelle Perthus, Anna Pierini, Bénédicte Bertaut‐Nativel, Anke Rissmann, Florence Rouget, Bruno Schaub, David Tucker, Diana Wellesley, Natalya Zymak‐Zakutnia, Ingeborg Barisic, Hermien E. K. de Walle, Monica Lanzoni, Carmel Mullaney, Lindsay Pennington, Judith Rankin   +27 more
wiley   +1 more source

Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries

Birth Defects Research, Volume 114, Issue 20, Page 1417-1426, December 1, 2022., 2022
Abstract Background Younger mothers are at a greater risk of having a pregnancy with gastroschisis and the risk is higher in the United Kingdom than other European countries. Gastroschisis is thought to be a vascular disruption anomaly and the aim of this study was to analyze the prevalence of other possible vascular disruption anomalies to determine ...
Joan K. Morris, Diana Wellesley, Elizabeth Limb, Jorieke E. H. Bergman, Agnieszka Kinsner‐Ovaskainen, Marie Claude Addor, Jennifer M. Broughan, Clara Cavero‐Carbonell, Carlos M. Dias, Luis‐Javier Echevarría‐González‐de‐Garibay, Miriam Gatt, Martin Haeusler, Ingeborg Barisic, Kari Klungsoyr, Nathalie Lelong, Anna Materna‐Kiryluk, Amanda Neville, Vera Nelen, Mary T. O'Mahony, Isabelle Perthus, Anna Pierini, Judith Rankin, Anke Rissmann, Florence Rouget, Geraldine Sayers, Sarah Stevens, David Tucker, Ester Garne   +27 more
wiley   +1 more source

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population‐based study

Birth Defects Research, Volume 114, Issue 20, Page 1427-1433, December 1, 2022., 2022
Abstract Background Amelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. We conducted a descriptive analysis of prevalence data in Finland during 1993–2008 to clarify the epidemiology nationwide in a population‐based register study.
Niklas Pakkasjärvi, Johanna Syvänen, Markus Wiro, Eeva Koskimies‐Virta   +3 more
wiley   +1 more source

The long⁃term follow⁃up report of an 18q⁃syndrome patient for 4 years and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
DOI：10.3969/j.issn.1672⁃6731.2012.05 ...
Yu⁃xia CHEN, Nong XIAO
doaj  

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Analysis of serum metabolism in premature infants before and after feeding using GC–MS and the relationship with necrotizing enterocolitis

Biomedical Chromatography, Volume 37, Issue 1, January 2023., 2023
Abstract Preterm birth and enteral feeding are two main factors leading to necrotizing enterocolitis (NEC). The metabolomics of preterm infants before and after feeding can provide a basis for the prediction of NEC. Using the method of cross‐sectional study, the mode was established with the serum samples of 19 premature infants at birth and after ...
Fusheng Wang, Guanghuan Wang, Weizhong Li, Chenbin Xu, Zailin Zeng, Yongcui Zhou   +5 more
wiley   +1 more source