Results 31 to 40 of about 1,414 (228)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Agenesia de artéria pulmonar direita

Medicina, 2020
A agenesia de artéria pulmonar é uma malformação congênita rara, que ocorre devido ao não desenvolvimento do sexto arco aórtico. Entretanto, não é relacionada com malformações cardíacas.
Ingred Stephany Domingues da Silva, Eugênio Fernandes de Magalhães, Letícia Carolina Malaquias Pereira, Luiza de Castro Cançado Braga, Victor Zenatti Femía, Cairo Barcelos Alves Serrano, Ana Luíza Rezende Collani, Paula Vieira Penha   +7 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 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

PREVALÊNCIA DE AGENESIA DENTÁRIA EM PACIENTES SUBMETIDOS A TRATAMENTO ORTODÔNTICO: UM ESTUDO RADIOGRÁFICO

Revista Uningá, 2021
A anomalia dentária de desenvolvimento mais comum na dentição humana é a agenesia dentária, que pode acontecer nas dentições decídua e permanente.
Camila Afonso Paravizo, Mônica Souza Pinto, Roberta Mansur Caetano, Alcemar Gasparini Netto, Maíra Tavares Faria Cassab   +4 more
doaj  

Agregado de trióxido mineral en la preservación de segundo molar primario en agenesia de sucedáneo

Odontología Sanmarquina, 2009
Se reporta un caso clínico de paciente femenina de 10 años de edad, a la que se le realiza una pulpectomía del diente 75 con agregado de trióxido mineral (MTA) como material de obturación definitiva, con el fin de preservar la pieza dentaria el mayor ...
Rita Salcedo Rioja, Rosa Pari Espinoza, Rubén Rivera Salazar   +2 more
doaj   +1 more source

Agenesia Nasal

Acta Médica Costarricense, 1998
Se presenta un caso de agenesia nasal, malformación congénita de rara ocurrencia y de incidencia desconocida que constituye un verdadero reto para el especialista que se enfrenta a ella por las implicaciones estéticas y funcionales que representa. Puede asociarse a otras malformaciones congénitas y en determinados casos poner en peligro la vida del ...
Gisela Fonseca Portilla, Roberto Herrera Guido   +1 more
openaire   +2 more sources

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

Agenesia esternal total: reconstrucción esternal con placas absorbibles y pericardio bovino en un paciente de 4 años

Revista Colombiana de Cirugía, 2021
La agenesia esternal es una rara malformación del desarrollo embrionario del esternón, que puede estar o no relacionado con otras anomalías congénitas.
Ricardo A. Zapata-González, Isabel Cristina Molina-Céspedes, Camilo Montoya-Medina, Paula Andrea Vélez-Castaño, Lenis Bedoya-Muñoz   +4 more
doaj   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source