Results 31 to 40 of about 133,189 (264)

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

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

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Epidemiology and structure of congenital anomalies of the newborns in the region of Novi Sad (Vojvodina, Serbia) in 1996 and 2006 [PDF]

Vojnosanitetski Pregled, 2016
Background/Aim. According to the World Health Organization (WHO) definition, congenital anomalies are all disorders of the organs or tissues, regardless of whether they are visible at birth or manifest in life, and are registered in the ...
Ristivojević Anđelka, Lukić-Đokić Petra, Katanić Dragan, Dobanovački Dušanka, Jovanović-Privrodski Jadranka   +4 more
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Orofacial Clefts and Maternal Risk Factors: A Population-Based Case–Control Study

Children
Background/Objectives: Orofacial clefts (OFCs) are some of the most common congenital anomalies worldwide. The aim of this case–control study was to evaluate the association of OFCs with selected maternal characteristics.
Michele Santoro, Lorena Mezzasalma, Alessio Coi, Anna Pierini   +3 more
doaj   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Medication use during pregnancy and the risk of gastroschisis: a systematic review and meta-analysis of observational studies

Orphanet Journal of Rare Diseases
Objectives The aetiology of gastroschisis is considered multifactorial. We conducted a systematic review and meta-analysis to assess whether the use of medications during pregnancy, is associated with the risk of gastroschisis in offspring.
Silvia Baldacci, Michele Santoro, Lorena Mezzasalma, Anna Pierini, Alessio Coi   +4 more
doaj   +1 more source

Effect of low dose aspirin application during pregnancy on fetal congenital anomalies

BMC Pregnancy and Childbirth, 2022
Background With the extensive use of aspirin in obstetrics and reproductive medicine, concerns of potentially related congenital anomalies have been raised in previous studies.
Si Sun, HongYang Qian, Congcong Li, Qiaohong Wang, Aimin Zhao   +4 more
doaj   +1 more source

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