Results 141 to 150 of about 2,167,838 (317)

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  

Improvement of Repolarization Abnormalities by a K ⁺ Channel Opener in the LQT1 Form of Congenital Long-QT Syndrome [PDF]

, 1998
Wataru Shimizu, Takashi Kurita, Kiyotaka Matsuo, Kazuhiro Suyama, Naohiko Aihara, Shiro Kamakura, Jeffrey A. Towbin, Katsuro Shimomura   +7 more
openalex   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +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  

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Intraoral Scanning in Children with Congenital Zika Virus Syndrome: Using a Technological Resource to Diagnose Oral, Dental, and Occlusion Alterations

Pesquisa Brasileira em Odontopediatria e Clínica Integrada
Objective: To describe digital intraoral scanning in five children with microcephaly caused by the Zika virus, detailing occlusal and dental characteristics using digital models.
Manuel Carlos Gomes Reinaldo, Isabella Fernandes Carvalho, Paulo Goberlânio de Barros Silva, Daniel de Sá Cavalcante, Cláudio Roberto Tavares Pereira Filho, Phillipe Nogueira Barbosa Alencar   +5 more
doaj  

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  

Prenatal VEGF Nano-Delivery Reverses Congenital Diaphragmatic Hernia-Associated Pulmonary Abnormalities [PDF]

Stavros Loukogeorgakis, Federica Michielin, Noura Al‐Juffali, Julio Jiménez, Soichi Shibuya, Jessica Allen-Hyttinen, Mary Patrice Eastwood, Ahmed Alhendi, Joseph Davidson, Eleonora Naldi, Panagiotis Maghsoudlou, Alfonso Tedeschi, S Khalaf, Aziza Khabbush, Manuela Platé, Camila Girardi Fachin, Andre Dos Santos Dias, Nikhil Sindhwani, Dominic Scaglioni, Theodoros Xenakis, Neil J. Sebire, Monica Giomo, Simon Eaton, Jaan Toelen, Camilla Luni, Piero G. Pavan, Peter Carmeliet, Francesca Maria Russo, Sam M. Janes, Marko Nikolić, Nicola Elvassore, Jan Deprest, Paolo De Coppi   +32 more
openalex   +1 more source

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source