Results 101 to 110 of about 227,365 (300)

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

Congenital anomalies in Baghdad children born near US military burn-pits: A case-control study showing tungsten and chromium association with increased odds of disease

Hygiene and Environmental Health Advances
Increases in congenital anomalies were reported from Iraq post-2003. We investigated associations of residential proximity to two US military bases – Camp Victory and Base Falcon – and metal levels in hair samples of children with congenital anomalies ...
M. Savabieasfahani, F．Basher Ahamadani, Ban Talib Fadhel   +2 more
doaj   +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

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

THE RISK FACTORS AND FREQUENCY OF CONGENITAL ANOMALIES IN NEONATES BORN AFTER ASSISTED REPRODUCTIVE TECHNIQUE IN BAGHDAD

The Iraqi Journal of Medical Sciences, 2018
Background: Assisted reproductive technique (ART) has helped couples all over the world. There have already been over 3,500,000 births resulting from ART, and with falling fertility in some countries.
Deia K. Khalaf
doaj   +6 more sources

Dysphagia in an adult tetralogy of fallot with double aortic arch [PDF]

, 2013
Double aortic arch (DAA) is a common vascular ring. It may occur in isolation or coexist with various types of congenital heart disease . The anomaly usually presents in early infancy.
Bhan, Anil, Munesh, Tomar, Pankaj, Bhatiya   +2 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Evaluation of Fetal Congenital Anomalies After 23 Weeks of Gestation: Clinical Analysis of 444 Cases

Gynecology Obstetrics & Reproductive Medicine, 2011
OBJECTIVE: In this study it is objected to identify the frequency and distribution of congenital anomalies in babies born at Selçuk University Meram Medical School, Department of Obstetrics and Gynecology.
Kazım Gezginç, Rengin Karataylı, Fatma Yazıcı, Mehmet Sait İçen, Ali Acar   +4 more
doaj  

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Pattern of congenital anomalies as seen in university of Benin Teaching Hospital, Benin City, Nigeria

Sahel Medical Journal, 2011
Background: Congenital malformations are a major cause of perinatal and neonatal deaths, and disability both in developed and developing countries. Objective: The objective of this study was to determine the pattern of congenital anomalies seen in babies
I R Okonkwo, H O Omoruyi, Bl Abhulimhen-lyoha, A l Omoigberale   +3 more
doaj