Results 71 to 80 of about 8,111 (187)

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. [PDF]

, 2016
Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are nonimmune conditions that present with generalized edema of
Ostergaard, P, Martinez-Corral, Ines,, Martinez-Corral, I, Simpson, MA, Karapouliou, Christina,, Jeffery, H, Wedin, M., Gordon, K, Lin, S., Jeffery, S, Wiseman, John W., Mansour, S, Martinez-Corral, I., Atton, G., Gordon, K., Lin, Shin,, Marianne Wedin, Brice, Glen, Steve Jeffery, Gordon, Kristiana, Jeffery, H., Mortimer, PS, Ostergaard, Pia,, Ostergaard, Pia, Fotiou, Elisavet, Mansour, Sahar,, Wedin, Marianne,, Gilissen, Christian, Karapouliou, Christina, Brice, G, Brice, G., Holdhus, R., Wiseman, John W.,, Fotiou, Elisavet,, Hoischen, Alexander, Martin-Almedina, Silvia,, Martin-Almedina, S., Kjell Petersen, Jeffery, S., Sahar Mansour, Rockson, Stanley G., Michael P. Snyder, Alexander Hoischen, Kristiana Gordon, Brice, Glen,, Vicente, Andres, Mansour, Sahar, Gilissen, C.F., Berland, S, Mansour, S., Mäkinen, Taija, Wedin, M, Gilissen, Christian,, Berland, S., Fotiou, E, Holdhus, R, Vicente, Andres,, Martin-Almedina, Silvia, Makinen, T., Hoischen, Alexander,, Atton, Giles, Rockson, Stanley G.,, Simpson, M.A., Simpson, Michael A., Ines Martinez-Corral, Mortimer, P.S., Petersen, Kjell, Shin Lin, Gordon, Kristiana,, Jeffery, Heather, Christina Karapouliou, Michael A. Simpson, Mortimer, Peter S.,, Petersen, Kjell,, Snyder, Michael P., Rockson, S.G., Vicente, A., Rockson, SG, Wiseman, J.W., Holdhus, Rita,, Simpson, Michael A.,, Petersen, K., Heather Jeffery, Glen Brice, Wedin, Marianne, Jeffery, Steve,, Christian Gilissen, Silvia Martin-Almedina, Karapouliou, C, Fotiou, E., Atton, Giles,, Taija Makinen, Hoischen, A, Vicente, A, Petersen, K, Stanley G. Rockson, Snyder, MP, Mäkinen, Taija,, Martin-Almedina, S, Wiseman, JW, Peter S. Mortimer, Giles Atton, Martinez-Corral, Ines, Berland, Siren, Holdhus, Rita, John W. Wiseman, Mortimer, Peter S., Berland, Siren,, Snyder, Michael P.,, Lin, S, Jeffery, Steve, Lin, Shin, Jeffery, Heather,, Pia Ostergaard, Snyder, M.P., Andres Vicente, Karapouliou, C., Rita Holdhus, Atton, G, Makinen, T, Gilissen, C, Hoischen, A., Elisavet Fotiou, Siren Berland, Ostergaard, P.   +124 more
core   +2 more sources

Prenatal-Onset Niemann–Pick Type C Disease with Nonimmune Hydrops Fetalis

Pediatrics and Neonatology, 2013
Niemann–Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. This autosomal recessive disorder occurs in approximately 1/
Ozge Surmeli-Onay, Selin Yakarisik, Ayse Korkmaz, Zuhal Akcoren, Aysel Yuce, Heiko Runz, Miriam Stampfer, Murat Yurdakok   +7 more
doaj   +1 more source

RAPSN‐Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
Biallelic pathogenic variants in RAPSN cause a form of congenital myasthenic syndrome (CMS), which is typically characterized by fatiguable muscle weakness, hypotonia, and feeding difficulties that present in the neonatal period or early childhood. RAPSN‐associated CMS can be treated with acetylcholinesterase inhibitors.
Laura Keehan, Jennefer N. Carter, Elijah Kravets, Matthew T. Wheeler, Jonathan A. Bernstein, Ricardo A. Maselli, Jacinda B. Sampson, Suha Bachir, Irfan Ahmad   +8 more
wiley   +1 more source

Hydrops Fetalis [PDF]

, 2019
Tujuan: Melaporkan kasus hydrops fetalis Metode: Laporan kasus Hasil: Kasus pasien wanita usia 36 tahun, dengan diagnosa G3P1A1H1 gravid 23-24 minggu + Hydrops Fetalis + bekas SC 1x.
Roza Sriyanti, Jofril Azmi
core   +1 more source

Nonimmune hydrops fetalis associated with extralobar pulmonary sequestration: Case report

, 1997
Nonimmune hydrops fetalis is a rare congenital anomaly resulting from a variety of conditions. Extralobar pulmonary sequestration leads to hydrops and hypoplasia of the adjacent structures.

core  

Antenatal Imaging of Ebstein’s Anomaly with Hydrops Fetalis

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Ebstein’s anomaly is a rare congenital cardiac anomaly characterized by tricuspid valve (TV) malformation, including the low insertion of the septal and posterior leaflets of the TV into the tricuspid annulus. It is one of the common malformations of the
Shrishail Adke, Harshitha H. Shetty, Hemangini Thakkar   +2 more
doaj   +1 more source

Retrospective Analysis of the Congenital Malformations in the Tertiary Center in Şanlıurfa

Van Tıp Dergisi, 2019
INTRODUCTION: The aim of this study is to determine the incidence, type and distribution of congenital anomalies that were diagnosed prenatally in a tertiary center of Sanliurfa which is the city that has the highest birth rate of Turkey.
Sibel Sak, Mert Ulaş Barut, Emin Taşdüzen, Nurullah Peker, Muhammed Erdal Sak   +4 more
doaj   +1 more source

Etiology and Outcome of Hydrops Fetalis: Report of 62 Cases

Pediatrics and Neonatology, 2014
We aimed to define the etiologic and prognostic factors in live-born infants with hydrops fetalis (HF) in our tertiary neonatal intensive care unit over a 10-year period.
Sahin Takci, Mina Gharibzadeh, Murat Yurdakok, Ozgur Ozyuncu, Ayse Korkmaz, Zuhal Akcoren, Sule Yigit   +6 more
doaj   +1 more source

Hidropisia fetal não imune: experiência de duas décadas num hospital universitário Nonimmune hydrops fetalis: two decades of experience in a university hospital

Revista Brasileira de Ginecologia e Obstetrícia, 2012
OBJETIVO: Identificar a etiologia da hidropisia fetal não imune em gestantes diagnosticadas e encaminhadas para acompanhamento pré-natal. MÉTODOS: Estudo retrospectivo com análise dos casos de hidropisia fetal não imune que foram acompanhados entre março
Alessandra Fritsch, Ana Lúcia Letti Müller, Maria Teresa Vieira Sanseverino, Rejane Gus Kessler, Patricia Martins Moura Barrios, Lucas Mohr Patusco, José Antonio de Azevedo Magalhães   +6 more
doaj   +1 more source

Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report

Taiwanese Journal of Obstetrics & Gynecology
Objective: To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease. Case report: A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revealed ...
Chin-Chieh Hsu, Ni-Chung Lee, Yin-Hsiu Chien, Chao-Fan Liu, Yao-Lung Chang   +4 more
doaj   +1 more source