Results 51 to 60 of about 5,347,369 (278)

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity

BMC Pregnancy and Childbirth, 2003
Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 ...
Ermis Hayri, Basaran Seher, Karaca Nilay, Aslan Halil, Ceylan Yavuz   +4 more
doaj   +1 more source

Perbedaan Rerata Kadar Ferritin dan Kadar Malondialdehid pada Darah Tali Pusat Neonatus Normal dan Intrauterine Growth Restriction

Majalah Kedokteran Andalas, 2023
Tujuan : Untuk mengetahui perbedaan kadar ferritin dan malondialdehid pada darah tali pusat neonatus normal dan neonatus Intrauterine growth restriction (IUGR). Metode : analitik observasional dengan desain cross sectional comparative.
wilfa muslimah sihaloho
doaj   +1 more source

The Role of Genes and Environment on Fetal Growth [PDF]

, 2014
Fetal growth is influenced by the in utero environment and genetic factors inherited from both parents. Poor fetal growth leading to low birth weight is associated with insulin resistance and type-2 diabetes in later life.
Hillman, SL
core  

Pathway analysis of intrauterine growth restriction.

, 2019
Pathway analysis of intrauterine growth restriction.
Stewart F. Graham (710687), Ali Yilmaz (1430095), Andrew Mrazik (6612017), Ray Oliver Bahado-Singh (6612014), Eric Sherman (3913357), Anthony Odibo (6612020), Onur Turkoglu (804908), Halil Bisgin (3163854), Praveen Kumar (8242)   +8 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Cardiovascular adaptation to extrauterine life after intrauterine growth restriction

, 2017
IntroductionThe adaptive changes of the foetal heart in intrauterine growth restriction can persist postnatally. Data regarding its consequences for early circulatory adaptation to extrauterine life are scarce. The aim of this study was to assess cardiac
Miriam Perez-Cruz, Fátima Crispi, Luciana Rodriguez-Guerineau, María D. Gomez Roig, Fredy Prada, Joaquim Bartrons, Francisco J. Cambra, Olga Gómez, Juan Carretero   +8 more
core   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Twin pregnancies and the limits of the energetics of gestation and growth hypothesis

The Anatomical Record, EarlyView.
Abstract The “Energetics of Gestation and Growth” (EGG) hypothesis proposes that human birth timing and the associated secondary altriciality of human newborns is determined by limits in maternal metabolic capacity. According to this model, labor is triggered when the increasing fetal energy requirements exceed the expectant mother's maximum sustained ...
Cédric Cordey, Nicole M. Webb, Martin Haeusler   +2 more
wiley   +1 more source