Results 91 to 100 of about 159,850 (300)

Excess Maternal Weight Gain and Large for Gestational Age Risk among Women with Gestational Diabetes

, 2015
To determine whether, among women with gestational diabetes (GDM), gestational weight gain above Institute of Medicine (IOM) guidelines increases the risk of large for gestational age (LGA ...
Boggess, Kim, Stuebe, Alison, Berggren, Erica   +2 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

Application of 4 birthweight curves and local reference range at a University Hospital of Rio de Janeiro, BrazilAJOG Global Reports at a Glance

AJOG Global Reports
BACKGROUND: Numerous fetal growth curves have been developed from various subpopulations and geographic locations worldwide. OBJECTIVE: To determine the birthweight standard at the Maternity School and compare it to currently used standards in the ...
Fabio G. Da Matta, MD, MSc, Karina Bilda de Castro Rezende, MD, PhD, Maria Isabel M.P. Cardoso, MD, MSc, Luiza P. Ladeira, MD, Rita G. Bornia, MD, PhD, Joffre Amim, Jr., MD, PhD   +5 more
doaj   +1 more source

Interpregnancy change in body mass index and infant outcomes in Texas: a population-based study

BMC Pregnancy and Childbirth, 2019
Background Maternal prepregnancy body mass index (BMI) is associated with several infant outcomes, but it is unclear whether these associations reflect causal relationships.
Renata H. Benjamin, Sarah Littlejohn, Mark A. Canfield, Mary K. Ethen, Fei Hua, Laura E. Mitchell   +5 more
doaj   +1 more source

Gestational weight gain as an independent risk factor for adverse pregnancy outcomes in women with gestational diabetes

, 2018
OBJECTIVE: Obesity and gestational diabetes mellitus (GDM) are rising worldwide. This study retrospectively evaluated the role of excessive gestational weight gain (eGWG) in women with GDM and different pre-pregnancy body mass indices (BMIs). PATIENTS
De Carolis, S, Pitocco, D, Lanzone, A, Di Stasio, E, Salvi, S, Di Leo, M, Tartaglione, L, Rizzi, A   +7 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

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

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

Fetal myocardial performance index in assessment and management of small-for-gestational-age fetus: a cohort and nested case–control study

, 2018
Objective: To assess the clinical utility of the fetal myocardial performance index (MPI) in assessment and management of the small-for-gestational-age (SGA) fetus/growth-restricted fetus (FGR).
D. Tynan, AW Welsh (10665819), Henry, A ; https://orcid.org/, Alphonse, J ; https://orcid.org/, J. Alphonse, D Tynan (9881873), A. W. Welsh, Jennifer Alphonse (9776951), Tynan, D, A. Henry, Amanda Henry (110129), Welsh, AW ; https://orcid.org/   +11 more
core   +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