Results 191 to 200 of about 2,214,382 (367)

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

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart, Sophie E. Legge, Eilidh Fenner, Antonio F. Pardiñas, Grace Woolway, Amy J. Lynham, Valentina Escott‐Price, Jeremy Hall, Lawrence Wilkinson, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, James T.R. Walters   +12 more
wiley   +1 more source

Clinico-Radiologic Perspective of a Case of Hemifacial Microsomia [PDF]

Journal of Clinical and Diagnostic Research, 2016
Mandakini Subhash Mandale, Jyoti Dilip Bhavthankar, Jayanti Govind Humbe, Pritam Kumar Mankapure   +3 more
doaj   +1 more source

Defectos congénitos faciales en pacientes atendidos en el Hospital Pediátrico “Mártires de Las Tunas”

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2015
Fundamento: desde épocas remotas hasta la actualidad, la forma en que las personas con defectos congénitos son tratadas por el resto de la sociedad han variado, reflejando el estilo de vida y la cultura de los diferentes pueblos.
Sara Elena Panizo Bruzón, Salvador Javier Santos Medina, Martha Santiago Fernández, Lourdes Bouza Piard   +3 more
doaj  

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Impacto del diagnóstico prenatal en la incidencia al nacer de defectos congénitos

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: los estudios de prevalencia de defectos congénitos permiten evaluar los resultados de los programas y trazar estrategias.Objetivo: describir el impacto de los programas del diagnóstico prenatal en la incidencia al nacer de defectos congénitos,
Nora María Orive Rodríguez, Enelis Reyes Reyes   +1 more
doaj  

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

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities. [PDF]

Genet Med, 2021
Snijders Blok L, Vino A, den Hoed J, Underhill HR, Monteil D, Li H, Reynoso Santos FJ, Chung WK, Amaral MD, Schnur RE, Santiago-Sim T, Si Y, Brunner HG, Kleefstra T, Fisher SE.   +14 more
europepmc   +1 more source

Congenital Abnormalities in the African Newborn [PDF]

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