Results 181 to 190 of about 344,701 (302)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

The intersection of cervicovaginal microbiota and cervical length in predicting adverse perinatal outcomes at preterm birth risk. [PDF]

BMC Pregnancy Childbirth
Okutucu G, Tanacan A, Bayraktar N, Ozdal BB, Babayigit EB, Dinc B, Kara O, Sahin D.   +7 more
europepmc   +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

Prediction of preterm birth from cervical length measurements in twin pregnancies using machine learning. [PDF]

Sci Rep
Costanzo A, Szymanowski M, Melamed N, Sussman D.   +3 more
europepmc   +1 more source

Consistency in the transabdominal ultrasound measurement of cervical length in mid-pregnancy. [PDF]

Australas J Ultrasound Med, 2022
Pedretti MK, Nathan EA, Doherty DA, Dickinson JE.   +3 more
europepmc   +1 more source

Implementing Indigenous Data Sovereignty in Australia: A Five‐Phase Framework for Indigenous Data Governance

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn, Michael A. Guerzoni, Maggie Walter, Gawaian Bodkin‐Andrews, Bobby Maher   +4 more
wiley   +1 more source

A prospective study to correlate the cervical length by transvaginal ultrasound with preterm labor and perinatal outcomes. [PDF]

AJOG Glob Rep
Mahale N, Panchal D, Mahale A, Ullal S, Fernandes M, Prabhu S.   +5 more
europepmc   +1 more source

Correction: Antenatal cervical length measurement as a predictor of successful vaginal birth. [PDF]

BMC Pregnancy Childbirth, 2022
Taha OT, Elprince M, Atwa KA, Elgedawy AM, Ahmed AA, Khamees RE.   +5 more
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Predictive value of cervical length for spontaneous preterm birth in women with cervical cerclage. [PDF]

Ultrasound Obstet Gynecol
Mountain KE, Ng S, Elger T, Judah H, Akolekar R, Lewis HV, MacIntyre DA, Terzidou V, Bennett PR, Teoh TG, Sykes L, Nicolaides KH.   +11 more
europepmc   +1 more source