Results 91 to 100 of about 297,592 (300)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Treatments for women with gestational diabetes mellitus: an overview of Cochrane systematic reviews [PDF]

, 2018
Background Successful treatments for gestational diabetes mellitus (GDM) have the potential to improve health outcomes for women with GDM and their babies. Objectives To provide a comprehensive synthesis of evidence from Cochrane systematic reviews of
Alsweiler, Jane, Brown, Julie, Crowther, Caroline A, Downie, Michelle R, Martis, Ruth, Shepherd, Emily   +5 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Risk Factors for Small-for-Gestational-age and Preterm Births among 19,269 Tanzanian Newborns. [PDF]

, 2016
Few studies have differentiated risk factors for term-small for gestational age (SGA), preterm-appropriate for gestational age (AGA), and preterm-SGA, despite evidence of varying risk of child mortality and poor developmental outcomes.
A Sania, ACC Lee, Alfa Muhihi, AT Papageorghiou, Christina Briegleb, Christopher R. Sudfeld, D Rush, Emily R. Smith, Grace Jean-Yee Chan, GS Berkowitz, H Blencowe, H Blencowe, H Masanja, Honorati Masanja, J Katz, J Van Roosmalen, K Kramer, K Panaretto, M Carolan, M Heaman, MD Kogan, MI Hernández, MJ Rijken, Mohamed Bakari, MS Kramer, N Kozuki, O Esimai, P Christian, Ramadhani A. Noor, Salum Mshamu, T Rodrigues, Wafaie Fawzi, Y Yogev   +32 more
core   +2 more sources

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

Birth weight classification in gestational diabetes: is there an ideal chart?

Clinical and Biomedical Research, 2017
Introduction: Gestational diabetes mellitus (GDM) is associated to increased rates of large for gestational age newborns and macrosomia. Several charts are used to classify birth weight.
Livia Silveira Mastella, Letícia Schwertz Weinert, Vanessa Gnielka, Vânia Naomi Hirakata, Maria Lúcia Rocha Oppermann, Sandra Pinho Silveiro, Angela Jacob Reichelt   +6 more
doaj   +2 more sources

Vitamins and Perinatal Outcomes Among HIV-Negative Women in Tanzania. [PDF]

, 2007
Prematurity and low birth weight are associated with high perinatal and infant mortality, especially in developing countries. Maternal micronutrient deficiencies may contribute to these adverse outcomes. In a double-blind trial in Dar es Salaam, Tanzania,
Allen LH, Baum M, Brenner WE, Donna Spiegelman, Ellen Hertzmark, Friis H, Gernard I. Msamanga, Lumley J, Osendarp SJ, Paul Petraro, Ramakrishnan U, Ramakrishnan U, Ramsay VP, Rao S, Wafaie W. Fawzi, Walter C. Willett, Willy Urassa   +16 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Tobacco use in the third trimester of pregnancy and its relationship to birth weight. A prospective study in Spain [PDF]

, 2015
Background Few studies have been carried out in Spain examining the use of tobacco amongst expectant mothers and its effect on birth weight. Aims To observe the proportion of expectant mothers who smoke during their pregnancy, and the impact of tobacco ...
Castro Sanchez, EM, Hevilia-Cucarella, E, Martin-Moreno, JM, Soriano-Vidal, F, Vila-Candel, R   +4 more
core   +1 more source

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