Results 31 to 40 of about 3,407 (171)
Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice
Prenatal Diagnosis, EarlyView.ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley +1 more source
Nature's Ambiguous Sex: The Body as a Feminist Resource in German Naturism Around 1900
Gender &History, EarlyView.ABSTRACT While gender relations around 1900 were generally marked by sharp dichotomies grounded in nature and the body, the case of naturism appears paradoxical. An influential movement in Germany, it promoted a reform of the body according to natural principles.
Johannes Bosch
wiley +1 more source
An eighteen month-old infant with Cornelia de Lange syndrome: a case report [PDF]
Iranian Journal of Neonatology, 2015 Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error.
Reza saeidi +2 more
doaj
Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
Oman Journal of Ophthalmology, 2014 Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor ...
Bhamy Hariprasad Shenoy +3 more
doaj +1 more source
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
Nature Communications, 2021 Cornelia de Lange syndrome is a developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The authors, here, by analysing previously identified mutations in BRD4 associated with the disease, reveal that a BRD4 ...
Gabrielle Olley +7 more
doaj +1 more source
Acta Obstetricia et Gynecologica Scandinavica, EarlyView.This retrospective cohort compared umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies. Type III was the most common subtype in singletons, whereas Type II was the most common in twins. Fetal growth restriction was more frequent in twins, but primary structural anomaly rates were similar.
Yun Zhang +8 more
wiley +1 more source
Nature Communications, 2021 A feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure.
Felix D. Weiss +11 more
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Littoral cell angioma of the spleen in a child with Cornelia De Lange syndrome
Journal of Pediatric Surgery Case Reports, 2021 Littoral Cell Angioma (LCA) is a benign and rare vascular tumor of the spleen. It is uncommon in children, and a comprehensive literature review has yielded only 12 published pediatric cases of LCA.
Naeem Liaqat +4 more
doaj +1 more source
Acta Paediatrica, EarlyView.ABSTRACT Aim To evaluate associations between respiratory support strategies, partial pressure of carbon dioxide (pCO2) variability and oxygen exposure in neonates with hypoxic–ischaemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH). Methods This retrospective multicentre study used data from the German Hypothermia Registry, including ...
Sebiha Demir +93 more
wiley +1 more source
Stem Cell Research, 2022 Mutations in the HDAC8 are considered to be a prominent cause of Cornelia de Lange syndrome 5, a leading cause of intellectual disability and social disability.
Zilin Chen +4 more
doaj +1 more source