Results 121 to 130 of about 12,857 (288)

Abordaje clínico de variantes fenotípicas en neurofibromatosis de tipo 1

Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 2019
La neurofibromatosis de tipo 1 es una enfermedad genética de herencia autosómica dominante, de afectación multisistémica y gran variabilidad fenotípica, causada por una mutación del gen NF1 localizada en el cromosoma 17 q11.2 que afecta la codificación ...
Dora Lucía Vallejo, Jairo Enrique López   +1 more
doaj  

Abordagem da hipertrigliceridemia severa na gravidez: a propósito de um caso clínico [PDF]

, 2008
RESUMO Durante a gravidez o metabolismo lipídico é afectado pelas hormonas placentárias de modo a assegurar um adequado aporte nutricional para o feto, constatando-se um aumento fisiológico dos níveis de triglicerídeos (TG), em particular no terceiro ...
Carvalho, R., Giestas, A., Palma, I., Pichel, F., Ramos, M. H., Teixeira, S.   +5 more
core  

Audiological evaluation in infants with agenesis of the corpus callosum [PDF]

, 2014
Purposeto assess the occurrence of hearing loss in infants with corpus callosum agenesis comparing them to children without such malformation. Methoda cohort study in two parts: a retrospective from 2008 to 2011, and prospective from 2011 to 2012.
Angrisani, Rosanna Giaffredo, Azevedo, Marisa Frasson de, Santos, Mônica Faria Dos   +2 more
core   +3 more sources

Early Maturation of Heart Rate Variability in Very Preterm Infants Depends on Neonatal Factors and Is Associated With Neurodevelopmental Risk

Acta Paediatrica, EarlyView.
ABSTRACT Aim This study investigated central autonomic network maturation deviations using a previously defined machine learning model set to estimate a functional maturation age (FMA) from heart rate variability (HRV) analysis. We investigated whether these deviations were associated with maternal, fetal, perinatal, or postnatal complications and with
Léa Bonneau, Cyril Flamant, Maxime Esvan, Jean Michel Roué, Géraldine Favrais, Géraldine Gascoin, Sandie Cabon, Fabienne Porée, Guy Carrault, Patrick Pladys   +9 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Acurácia da ultra-sonografia pré-natal para detecção de anomalias congênitas maiores / [PDF]

, 1999
Dissertação (Mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.O objetivo do estudo foi avaliar a acurácia do ultra-som pré-natal para detecção de anomalias congênitas maiores.
Gonçalves, Luís Flávio de Andrade
core  

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, EarlyView.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Agenésia da vagina.

Acta Médica Portuguesa, 1998
In the last 10 years we treated ten patients with the diagnosis of vaginal agenesia. The reconstruction was performed according to the McIndoe procedure.
F Melo, C Godinho
doaj   +1 more source

Homo luzonensis and the role of homoplasy in the morphology of hominin insular species

Cladistics, EarlyView.
Abstract Homo luzonensis lived during the upper Pleistocene in the northern Philippines, east of the Wallace line. The few specimens attributed to this species show a mosaic of plesiomorphies for the genus Homo and apomorphies found in upper Pleistocene Homo species.
Pierre Gousset, Jérémie Bardin, Isabelle Rouget, Armand S. Mijares, Florent Détroit   +4 more
wiley   +1 more source