Results 61 to 70 of about 200,786 (315)

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

Dietary iron intake during early pregnancy and birth outcomes in a cohort of British women [PDF]

, 2011
Background: Iron deficiency during pregnancy is associated with adverse birth outcomes, particularly, if present during early gestation. Iron supplements are widely recommended during pregnancy, but evidence of their benefit in relation to infant ...
Greenwood, Darren C, Godfrey, KM, Simpson, NAB, J. E. Cade, McArdle, Harry J, D. C. Greenwood, Greenwood, Darren C., Alwan, NA, Simpson, Nigel A B, Greenwood, DC, Godfrey, Keith M, H. J. McArdle, McArdle, Harry J., Simpson, Nigel A.B., McArdle, HJ, K. M. Godfrey, Alwan, Nisreen A, Cade, Janet E, Cade, Janet E., Cade, JE, N. A. Alwan, N. A. B. Simpson, Alwan, Nisreen A., Godfrey, Keith M.   +23 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

Ultrasound evidence of early fetal growth restriction after maternal malaria infection.

, 2012
BACKGROUND: Intermittent preventive treatment (IPT), the main strategy to prevent malaria and reduce anaemia and low birthweight, focuses on the second half of pregnancy. However, intrauterine growth restriction may occur earlier in pregnancy. The aim of
Papageorghiou Aris T., Marcus J. Rijken (170994), Wiladphaingern Jacher, Pimanpanarak Mupawjay, Pimanpanarak, M, François Nosten (17237), Kiricharoen, S, Nosten François, Dwell Saw Lu Mu, Jacher Wiladphaingern, Suporn Kiricharoen (185368), Kennedy, SH, Mupawjay Pimanpanarak, Supan Thiptharakun, Stephen H Kennedy, Aris T. Papageorghiou (185366), Jacher Wiladphaingern (171011), Papageorghiou, Aris, Wiladphaingern, J, Rijken, MJ, Nosten, F, Stephen H. Kennedy (185374), Dwell, SL, François Nosten, Rijken Marcus J., Suporn Kiricharoen, Rose McGready, Thiptharakun Supan, McGready, R, Saw Lu Mu Dwell, Thiptharakun, S, Kennedy Stephen H., Supan Thiptharakun (185367), Aris T Papageorghiou, Mupawjay Pimanpanarak (185371), Saw Lu Mu Dwell (185369), Nosten, Francois, Kiricharoen Suporn, Papageorghiou, AT, Kennedy, Stephen, Marcus J Rijken, McGready Rose, Rose McGready (17231)   +42 more
core   +1 more source

Prevalence of vitamin B12 insufficiency during pregnancy and its effect on offspring birthweight: a systematic review and meta-analysis. [PDF]

, 2016
Background: Vitamin B-12 and folate are micronutrients essential for normal embryogenesis. Vitamin B-12 insufficiency in pregnancy is high in certain parts of the world, such as India, and although this has been linked to low birth weight (LBW) in these ...
Rafnsson, Snorri B., Kandala, Ngianga-Bakwin, Saravanan, Ponnusamy, Yajnik, Chittaranjan, Sukumar, Nithya, Rafnsson, Snorri B, Bhopal, Raj, Yajnik, Chittaranjan S., Rafnsson, Snorri, Yajnik, Chittaranjan S   +9 more
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Ontogeny of murine bony semicircular canal form

The Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna, Nathan Jeffery   +1 more
wiley   +1 more source

First-trimester diet quality in association with maternal subcutaneous and visceral adipose tissue thicknesses and glucose homeostasis during pregnancy

, 2023
We aimed to characterise the associations between first-trimester diet quality, adiposity, and glucose homeostasis measurements throughout pregnancy in a sample of 104 healthy pregnant women.
Anne-Sophie Morisset (5132495), Julie Robitaille (796418), S. John Weisnagel (8102691), Claudia Gagnon (642022), Anne-Sophie Plante (8411373), Mario Girard (3015435), Emmanuel Bujold (796420), Simone Lemieux (3188934), André Tchernof (541752), Emilie Bernier (14519807)   +9 more
core   +1 more source

Unraveling ovarian histology: The key morphological aspects that spur the development of the Fossa ovarii in equine

The Anatomical Record, EarlyView.
Abstract The equine ovary exhibits unique structural and developmental features that distinguish it from those of other domestic species, including the presence of an ovulation fossa and an inversion of cortical and medullary layers. This study aimed to investigate the morphostructural development of the equine fetal ovary, with particular emphasis on ...
Laura Ver Goltz, Silvio Pires Gomes, Bruno Cesar Schimming, Fabio Cesar Magioli Abdala, Maria Angélica Miglino, Tais Harumi de Castro Sasahara   +5 more
wiley   +1 more source