Results 71 to 80 of about 83,341 (293)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Fetal growth restriction - clinical manifestations through the perspective of pathophysiological changes [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy
Intrauterine restriction of fetal growth is one of the most interestings and nowadays intensively studied problems of modern obstetrics. Fetal growth restriction can lead to significant obstetric complications, as well as consequences after delivery ...
Capros Hristiana Capros, Voloceai Victoria, Cotelea Veronica, Mitriuc Diana, Pavlenco Angela   +4 more
doaj   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Inflammatory Response as a Mechanism of Perinatal Programming: Long-term Impact on Pulmonary and Renal Function? [PDF]

, 2012
RATIONALE: Temporal changes in the fetal environment, such as malnutrition and placental insufficiency induce intrauterine growth restriction (IUGR) and lead to a permanent changes of physiological processes later in life.
Alejandre Alcázar, Miguel Angel
core  

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Alteration of placental haemostatic mechanisms in idiopathic intrauterine growth restriction

Universitas Scientiarum, 2012
Intrauterine growth restriction is a complication of pregnancy with a high probability of perinatal morbidity and mortality. It appears tobe caused by abnormal development of placental vasculature.
Jaime Eduardo Bernal Villegas, Martha Cecilia Bermudéz de Rincon, Mercedes Olaya, Alejandra Espinosa, Paola Andrea Ayala-Ramírez, Reggie García-Robles, Juan Diego Rojas   +6 more
doaj  

Total Parenteral Nutrition Treatment in a Diabetic Pregnant Woman Complicated with Hyperemesis Gravidarum, Malnutrition, and Intrauterine Growth Restriction

Taiwanese Journal of Obstetrics & Gynecology, 2004
Objective: We report a case of a pregnant woman with diabetes, complicated with hyperemesis gravidarum, malnutrition, and intrauterine growth restriction, who was treated beneficially with total parenteral nutrition.
Chih-Wei Chen, Te-Yao Hsu, Shiuh-Young Chang, Men-Yin Tsai   +3 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Postnatal Catch-Up Growth After Suspected Fetal Growth Restriction at Term

Frontiers in Endocrinology, 2019
Objective: The aim of this study was to study growth patterns of children born after suspected fetal growth restriction (FGR) at term and to compare the effect of induction of labor (IoL) and expectant management (EM), also in relation to ...
Linda van Wyk, Linda van Wyk, Kim E. Boers, Aleid G. van Wassenaer-Leemhuis, Joris A. M. van der Post, Henk A. Bremer, Friso M. C. Delemarre, Sanne J. Gordijn, Kitty W. M. Bloemenkamp, Frans J. M. E. Roumen, Martina Porath, Jan M. M. van Lith, Ben W. J. Mol, Saskia le Cessie, Sicco A. Scherjon, The DIGITAT study group   +15 more
doaj   +1 more source