Results 51 to 60 of about 117,358 (311)

Estimating Global Burden of Disease due to congenital anomaly : An analysis of European data [PDF]

, 2017
Objective To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of ...
Karin Källén, Ester Garne (3169191), Addor, Marie-Claude, Ingeborg Barisic, Ben Wreyford (7760543), Rankin, Judith, Neville, Amanda J, Ester Garne, de Walle, Hermien E.K., Fabrizio Bianchi, McDonnell, Bob, Queisser-Wahrendorf, Annette, Källén, Karin, Hanitra Randrianaivo (248063), Barisic, Ingeborg, Judith Rankin, Helen Dolk (3169182), Catherine Rounding, Vera Nelen, Amanda J Neville, Wellesley, Diana, Vera Nelen (409807), Hermien E. K. de Walle (7760522), Miriam Gatt (5066549), de Walle, Hermien E K, Anna Latos-Bielenska (7760525), Rissmann, Anke, Hanitra Randrianaivo, Dias, Carlos Matias, Catherine Rounding (6016814), Karin Källén (3939776), Larraitz Arriola, Mary O’Mahony, Carlos Matias Dias (3162162), Judith Rankin (481828), Nelen, Vera, Ben Wreyford, Garne, Ester, Annette Queisser-Wahrendorf, Rounding, Catherine, Haeusler, Martin, Bob McDonnell (7760528), Elizabeth Draper (3472811), Anke Rissmann, David Tucker (3374453), Natalia Zymak-Zakutnia (7760546), Boyle, Breidge; id_orcid, Anke Rissmann (5066576), Melinda Csáky-Szunyogh (7760519), Arriola, Larraitz, Zymak-Zakutnia, Natalia, Amanda J. Neville (3169185), Randrianaivo-Ranjatoelina, Hanitra, Verellen-Dumoulin, Christine, Randrianaivo, Hanitra, Latos-Bielenska, Anna, Fabrizio Bianchi (252374), Ritvanen, Annukka, Annukka Ritvanen (7760540), Anna Latos-Bielenska, Breidge Boyle (3374462), Marie-Claude Addor, Annette Queisser-Wahrendorf (7760537), Bianchi, Fabrizio, Mary O’Mahony (7760534), Natalia Zymak-Zakutnia, Helen Dolk, Annukka Ritvanen, Christine Verellen-Dumoulin (5066546), Elizabeth Draper, Wreyford, Ben, Csáky-Szunyogh, Melinda, Martin Haeusler (3605276), Mullaney, Carmel, Draper, Elizabeth, Boyle, Breidge, Miriam Gatt, Christine Verellen-Dumoulin, Melinda Csáky-Szunyogh, Tucker, David, Carlos Matias Dias, Bob McDonnell, Dolk, Helen, Gatt, Miriam, Larraitz Arriola (147444), O'Mahony, Mary, Neville, Amanda J., de Walle, Hermien E. K., Diana Wellesley, Breidge Boyle, Ingeborg Barisic (5066582), Carmel Mullaney (7760531), Martin Haeusler, Marie-Claude Addor (344395), Hermien E K de Walle, David Tucker, Diana Wellesley (5066564), Carmel Mullaney   +97 more
core   +2 more sources

Diagnosis of Rare Association of Orthotopic Multicystic Dysplasia with Crossed Fused Renal Ectopia

Case Reports in Urology, 2014
Orthotopic multicystic dysplastic kidney with crossed fused ectopia is a rare congenital anomaly. This congenital anomaly may give an appearance of a solitary kidney morphology during the initial imaging evaluation.
Linnan Tang, June Koshy, Melissa R. Spevak, Jane E. Benson, Thangamadhan Bosemani   +4 more
doaj   +1 more source

MIS12 Is Required for Kinetochore‐Microtubule Attachment in Oocyte Meiosis

Advanced Science, EarlyView.
A model depicting the role of MIS12 in K‐MT attachment during oocyte meiosis. The presence of MIS12 stabilizes bipolar K‐MT attachments by maintaining the function of NDC80 and its interaction with TUBB. This, in turn, promotes KNL1 assembly and subsequent SAC protein recruitment to kinetochores.
Jian Li, Chun‐Hui Zhang, Yong Wang, Cheng‐Yuan Li, Da‐Rong Wen, Xi Xia, Liang Zhou, Wei‐Ping Qian, Qing‐Yuan Sun, Chang‐Zhong Li   +9 more
wiley   +1 more source

Relationship between birth weight to placental weight ratio and major congenital anomalies in Japan. [PDF]

PLoS ONE, 2018
Recent studies have indicated that birth weight to placental weight (BW/PW) ratio is related to perinatal outcomes, but the effect of congenital abnormalities on BW/PW ratio remains unclear. We performed this study to elucidate correlations between BW/PW
Ryuichi Takemoto, Ai Anami, Hiroshi Koga
doaj   +1 more source

Congenital Anomalies of the Breast [PDF]

Seminars in Plastic Surgery, 2013
Poland syndrome is a combination of chest wall deformity and absent or hypoplastic pectoralis muscle and breast associated with shortening and brachysyndactyly of the upper limb. Clinical presentation varies widely; therefore, reconstructive procedures have to be adapted to the deformity, ranging from chest wall stabilization or augmentation, dynamic ...
Louise, Caouette-Laberge, Daniel, Borsuk
openaire   +2 more sources

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 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

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Ellul, Marthese, Grixti, Charles J., Chircop, Marcelle, Grech, Victor E.   +3 more
core  

Toward the effective surveillance of hypospadias [PDF]

, 2004
Concern about apparent increases in the prevalence of hypospadias--a congenital male reproductive-tract abnormality--in the 1960s to 1980s and the possible connection to increasing exposures to endocrine-disrupting chemicals have underlined the ...
John E S Scott, Addor, Marie-Claude, Calzolari, Elisa, Addor, M.C., Nigel Physick, Botting, B., Loane, M, Scott, JES, Ester Garne, Elisa Calzolari, Physick, N., Stone, D, Romano Tenconi, Stone, David, Bev Botting, Dolk, H, Pierini, A, Marie-Claude Addor, Dolk, H., Pierini, Anna, Helen Dolk, Martine Vrijheid, Addor, MC, Maria Loane, Calzolari, E., Scott, J.E., Tenconi, R, Awi Wiesel, Hermien de Walle, David Stone, Garcia-Minaur, S, Physick, N, Physick, Nigel, Catherine de Vigan, Scott, John ES, de Vigan, Catherine, Garne, E., Garcia-Minaur, S., Loane, M., Pierini, A., Vrijheid, M., de Walle, H., Stone, D., Vrijheid, M, Tenconi, Romano, De, WH, Botting, Bev, Tenconi, R., Vrijheid, Martine, Wiesel, A, de Walle, Hermien, Anna Pierini, Garcia-Minaur, Sixto, Calzolari, E, Dolk, Helen, Garne, Ester, Wiesel, A., Wiesel, Awi, de, VC, de Vigan, C, de Vigan, C., de Walle, H, Garne, E, Botting, B, Sixto Garcia-Minaur, Loane, Maria   +65 more
core   +1 more source

Impact of pre-pregnancy diabetes mellitus on congenital anomalies, Canada, 2002–2012

Health Promotion and Chronic Disease Prevention in Canada, 2015
Objective: To examine the impact of pre-pregnancy diabetes mellitus (DM) on the population birth prevalence of congenital anomalies in Canada. Methods: We carried out a population-based study of all women who delivered in Canadian hospitals (except those
S. Liu, J. Rouleau, J. A. León, R. Sauve, K. S. Joseph, J. G. Ray, Canadian Perinatal Surveillance System   +6 more
doaj   +1 more source