Results 71 to 80 of about 1,473 (227)

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well‐Phenotyped International Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicenter cohort study of fetuses with a prenatal diagnosis of ACC undergoing ...
Lorraine Dugoff, Natalie Chandler, Stephanie Allen, Sarah A. Graham, Vicki Harrison, Anne McCabe, Anna de Burca, Audrey Smith, Erina Sasaki, Mairead Hagarty, Juliana S. Gebb, Shelly Soni, Sonika Agarwal, Beverly G. Coleman, Haley M. Crane, Mary E. Norton, Billie R. Lianoglou, Alex Gibbs, Lyn S. Chitty   +18 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  

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

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Measuring the Utility of Prenatal Exome Sequencing Using the Clinician‐Reported Genetic Testing Utility InDEx for Prenatal Care: A Retrospective Multicentre Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To assess the diagnostic and clinical utility of prenatal exome sequencing (ES) in a cohort of pregnancies using the Clinician‐reported Genetic testing Utility InDEx for Prenatal Care (C‐GUIDE Prenatal). Methods Cases that met criteria for prenatal ES in Ontario, Canada were identified in 5 clinics. Clinicians assessed the utility of
Robin Z. Hayeems, Stephanie Luca, Bowen Xiao, David Chitayat, Erin Mathews, Sankavi Mohanathas, Christie Boswell‐Patterson, Kym M. Boycott, Joanna Lazier, Patricia Silva‐Roy, Courtney Kiss, Maggie Campbell, Dayna‐Lynn Nevay, Rachelle Dinchong, Kalene van Engelen, Pierre Sinajon, Elaine S. Goh, Andrea Guerin, Tugce B. Balci, Wendy J. Ungar, Christine M. Armour   +20 more
wiley   +1 more source

Epiphora: A Structured Diagnostic Approach for the Otolaryngologist

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Introduction Epiphora, or excessive tearing, has historically been predominantly managed by ophthalmologists. However, as there is substantial overlap between ophthalmic and otolaryngologic anatomy and pathology that may contribute to epiphora, patients with this symptom often present to otolaryngologists as well.
Luke M. O'Neil, Sam Kushner‐Lenhoff, Alexandra Van Brummen, Christopher Chambers, Hector Perez, Ashton E. Lehmann, Matthew M. Zhang, Aria Jafari   +7 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

Reassessment of the morphological evidence for hominin hybrids in the Levant Réévaluation des indices morphologiques d'hominines hybrides au Proche‐Orient

Journal of the Royal Anthropological Institute, EarlyView.
The Levantine hominin fossil and archaeological records have played a central role in long‐standing palaeoanthropological debates over origin models and possible interbreeding between Neanderthals (Homo neanderthalensis) and Homo sapiens. Recent research has provided a strong framework for the morphological expectations of recent hybrid ancestry in ...
Suzy White, Chris Stringer
wiley   +1 more source

A Uterus‐Preserving Laparoscopic Technique for Cervicovaginal Agenesis With Functional Uterine Remnants

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Cervicovaginal agenesis with functional uterine remnants is a rare Müllerian anomaly that may cause obstructed menstrual flow, pelvic pain, haematometra, haematosalpinx and endometriosis. Uterus‐preserving reconstruction is challenging because it requires both neovaginal creation and durable uterine drainage.
Kiper Aslan, Isil Kasapoglu, Bahadir Kosan, Gürkan Uncu   +3 more
wiley   +1 more source

Agenesia de vesícula biliar diagnosticada durante la cirugía

Anales de la Facultad de Medicina
La agenesia de vesícula biliar es una enfermedad extremadamente rara, que simula patología biliar, es más frecuente en mujeres, y puede presentarse sola o asociarse a otras malformaciones.
Angel F. Vera-Portilla, Walter Vera-Portilla, Yamile Haito-Chavez, Darwin Olaguivel   +3 more
doaj   +1 more source