Results 231 to 240 of about 2,178,409 (393)

Congenital abnormalities. [PDF]

BMJ, 1985
openaire   +2 more sources

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

Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

Endocrinology, Diabetes &Metabolism, Volume 6, Issue 1, January 2023., 2023
MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. In this review, we discuss the genetics, pathogenesis, clinical presentation, diagnosis, and treatments for Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency (MCADD ...
Emily Mason, Charles C. T. Hindmarch, Kimberly J. Dunham‐Snary   +2 more
wiley   +1 more source

Congenital Abnormalities of the Femur:A brief review of the cases observed at the Alfred I. du Pont Institute and a report of the treatment of one case of partial absence [PDF]

, 1962
Alfred R. Shands, G. Dean MacEwen
openalex   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Evaluation of maternal infusion therapy during pregnancy for fetal development

International Journal of Medical Sciences, 2005
The aim of this project was to study the possible association between maternal infusion treatments during pregnancy and variables of fetal development as well as the occurrence of congenital abnormalities (CA) in a case-control design.
doaj  

Congenital Abnormalities [PDF]

Proceedings of the Royal Society of Medicine, 1924
openaire   +2 more sources

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Congenital Abnormalities in the African Newborn [PDF]

, 1961
M. J. Simpkiss, Alexander J. Lowe
openalex   +1 more source

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Nature Genetics, 2016
C. Redin, H. Brand, Ryan L. Collins, T. Kammin, Elyse B Mitchell, Jennelle C Hodge, Carrie Hanscom, V. Pillalamarri, C. Seabra, M. Abbott, Omar Abdul-Rahman, E. Åberg, Rhett Adley, S. Alcaraz-Estrada, F. Alkuraya, Y. An, M. Anderson, Caroline Antolik, K. Anyane-Yeboa, Joan F. Atkin, Tina M Bartell, Jonathan A Bernstein, Elizabeth Beyer, Ian Blumenthal, E. Bongers, E. H. Brilstra, Chester W. Brown, H. Brüggenwirth, B. Callewaert, Colby Chiang, K. Corning, H. Cox, E. Cuppen, Benjamin Currall, T. Cushing, D. David, M. Deardorff, A. Dheedene, M. D’hooghe, B. Vries, Dawn L. Earl, H. Ferguson, Heather Fisher, David R Fitzpatrick, P. Gerrol, D. Giachino, J. Glessner, Troy J. Gliem, M. Grady, Brett H. Graham, Cristin Griffis, K. Gripp, A. Gropman, Andrea Hanson‐Kahn, David J Harris, M. Hayden, Rosamund Hill, R. Hochstenbach, Jodi D. Hoffman, R. J. Hopkin, M. W. Hubshman, A. M. Innes, M. Irons, M. Irving, J. Jacobsen, S. Janssens, T. Jewett, John P Johnson, M. Jongmans, Stephen Kahler, D. Koolen, J. Korzelius, P. Kroisel, Y. Lacassie, W. Lawless, E. Lemyre, K. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, E. Lose, D. Lucente, M. Macera, Poornima Manavalan, G. Mandrile, Carlo L. Marcelis, L. Margolin, Tamara Mason, D. Masser-Frye, Michael W. McClellan, Cinthya J Zepeda Mendoza, B. Menten, Sjors Middelkamp, L. Mikami, Emily J. Moe, S. Mohammed, T. Mononen, Megan Mortenson, Graciela Moya, A. Nieuwint, Zehra Ordulu, S. Parkash, Susan P Pauker, S. Pereira, Danielle L Perrin, K. Phelan, Raul E Piña Aguilar, P. Poddighe, Giulia Pregno, S. Raskin, L. Reis, W. Rhead, D. Rita, I. Renkens, F. Roelens, Jayla Ruliera, P. Rump, Samantha L. P. Schilit, R. Shaheen, R. Sparkes, Erica S. Spiegel, B. Stevens, M. Stone, Julia Tagoe, J. Thakuria, B. V. Bon, Jiddeke van de Kamp, I. Burgt, T. Essen, C. V. Ravenswaaij-Arts, M. V. Roosmalen, S. Vergult, Catharina M. L. Volker-Touw, Dorothy P Warburton, Matthew J. Waterman, S. Wiley, Anna Wilson, Maria de la Concepcion A Yerena-de Vega, Roberto T Zori, B. Levy, Han G. Brunner, N. Leeuw, W. Kloosterman, E. Thorland, Cynthia C Morton, J. Gusella, M. Talkowski   +148 more
semanticscholar   +1 more source