Results 61 to 70 of about 19,150 (213)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Prenatal diagnosis of goldenhar syndrome with unusual features by 3D ultrasonography [PDF]

, 2013
Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography: Oculo-auriculo-vertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures ...
CEYLANER, GÜLAY, Ceylan, N., Daplan, T., CEYLANER, SERDAR, Guzelmansur, I.   +4 more
core   +6 more sources

Prenatal diagnosis of urinary track defects

Journal of Education, Health and Sport, 2019
Introduction Congenital malformations are the main cause of miscarriage, perinatal mortality and disability among children. According to Polish Registry of Congenital Malformations for 2005-2006 congenital disorders affect 2.0-4.0% of newborns.
Agnieszka Maria Berendt, Monika Wójtowicz-Marzec   +1 more
doaj   +1 more source

Understanding Taiwanese Women's Decisional Experiences Regarding Prenatal Screening Procedures And Diagnostics: A Phenomenological Study

Asian Nursing Research, 2020
Purpose: This study sought to understand Taiwanese women’s decisional experiences regarding prenatal screening procedures and diagnostics. Methods: A hermeneutic phenomenological design guided semistructured interviews with 33 women who were 36 weeks ...
Mei-Man Chen, Bi-Hua Cheng
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Congenital pancreatic pseudocyst

Journal of Pediatric Surgery Case Reports, 2020
Pancreatic pseudocysts (PPs) rarely occur in the fetus. Accurate prenatal diagnosis is challenging. We report a case of left upper abdominal cystic mass detected by prenatal ultrasonography and Magnetic resonance imaging (MRI), which finally proven PPs ...
Jia Shi, Chengdong Wang, Fan Lv
doaj   +1 more source

Clients' reasons for prenatal ultrasonography in Ibadan, South West of Nigeria [PDF]

, 2009
Background Prenatal ultrasonography has remained a universal tool but little is known especially from developing countries on clients' reasons for desiring it.
Enabor Obehi O, Babatunde S Awoyinka, Gbadamosi Sikiru A, Christopher A Enakpene, Kalejaiye Adegoke O, Marinho Anthony O, Awoyinka, Babatunde S., Adedokun, Babatunde O., Anthony O Marinho, Kayode Sogo, Enabor, Obehi O., Marinho, Anthony O., Morhason-Bello, Imran O., Gbadamosi, Sikiru A., Enakpene Christopher A, Babatunde O Adedokun, Enakpene, Christopher A., Sogo, Kayode, Adegoke O Kalejaiye, Obehi O Enabor, Adedokun Babatunde O, Sogo Kayode, Sikiru A Gbadamosi, Awoyinka Babatunde S, Imran O Morhason-Bello, Kalejaiye, Adegoke O., Morhason-Bello Imran O   +26 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

mental and physical aspects in prenatal ultrasonography [PDF]

, 2016
Kurzzusammenfassung Ziel der Arbeit Die vorliegende Arbeit soll die psychischen, physischen und sozialen Aspekte eines Gesundheitsberufes in der pränatalen Ultraschalldiagnostik aufzeigen.
Titz, Jessica
core  

Fetal varicella-herpes zoster syndrome in early pregnancy: ultrasonographic and morphological correlation [PDF]

, 2001
We report a case of an intrauterine fetal infection by the varicella-herpes zoster virus following maternal varicella at 17 weeks' amenorrhea. Prenatal diagnosis of fetal infection was confirmed by serology and fetal damage by ultrasonography. Autopsy of
Petignat, Patrick, Hohlfeld, Patrick, Laurini, Ricardo,, Lund University., Vial, Yvan, Laurini, Ricardo   +5 more
core   +1 more source