Results 91 to 100 of about 10,363 (272)

Agenesia de artéria carótida interna

Jornal Vascular Brasileiro, 2018
Resumo A agenesia de carótida interna é uma anomalia rara. Na maioria dos casos, é assintomática devido às anastomoses que podem estar presentes, mas pode estar associada a complicações, principalmente quando evidenciada a presença de outras alterações ...
Adriano Carvalho Guimarães, Thaís Duarte Baião Pessoa, Ricardo Herkenhoff Moreira, Walter Junior Boim de Araujo   +3 more
doaj   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Agenesia pulmonar [PDF]

Revista chilena de pediatría, 1974
JORGE JIMENEZ, LEONIDAS PADILLA
openaire   +3 more sources

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

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  

Perosomus elumbis in a sheep in Brazil [PDF]

, 2008
Perosomus elumbis designa um conjunto raro de anomalias congênitas que primariamente incluem agenesia parcial da medula espinhal e vértebras lombossacrais.
Borges, José Renato Junqueira, Castro, Márcio Botelho de, Moscardini, Augusto Ricardo Coelho, Szabó, Matias Pablo Juan   +3 more
core   +1 more source

Fibroids in obstructed hemivagina and ipsilateral renal anomaly‐like syndrome: Successful hysterectomy and vaginal septoplasty in a kidney transplant recipient with uterus didelphys, vaginal septum and renal agenesis

International Journal of Gynecology &Obstetrics, EarlyView.
Mariana Correia Moreira Cruz, Sophia Helena Batalha, Vitor Matheus Silva, Marcos de Lorenzo Messina, José Maria Soares Junior, Edmund Chada Baracat   +5 more
wiley   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Prevalencia de anomalías dentarias en pacientes con fisura labio alveolo palatina atendidos en el Instituto Especializado de Salud del Niño Lima Perú

Odontología Sanmarquina, 2008
Se estudió las anomalías en número de las piezas dentarias en pacientes con fisura labio alveolo palatina (FLAP) utilizando radiografías panorámicas e historias clínicas de 129 niños (79 niños y 50 niñas) de 6 a 12 años, del Instituto Especializado de ...
Luis Alberto Mogollón Tello, Olinda Huapaya Paricoto   +1 more
doaj   +1 more source