Results 71 to 80 of about 47,624 (287)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Fetal alcohol syndrome in the UK. [PDF]

Arch Dis Child, 2023
Burleigh CR, Lynn RM, Verity C, Winstone AM, White SR, Johnson K.   +5 more
europepmc   +1 more source

DiGeorge's Syndrome and Fetal Alcohol Syndrome

Archives of Pediatrics & Adolescent Medicine, 1983
Sir.—Four patients with clinical and laboratory features of DiGeorge's syndrome with a history of maternal alcoholism were described by Ammann et al in the article "The DiGeorge Syndrome and the Fetal Alcohol Syndrome" (Journal1982;136:906-908). In the article (p 906), Ammann and colleagues stated, "Maternal alcoholism may result in the DiGeorge ...
openaire   +3 more sources

Late Pregnancy Antiseizure Medication Exposure and Offspring Neurodevelopmental Risk: A Multi‐Child Cohort Study

Annals of Neurology, EarlyView.
Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy, Vanina Tchuente, Sherif Eltonsy, Steven Hawken, Padma Kaul, Mark Walker, Michael Pugliese, Roxana Dragan, Anamaria Savu, Lisiane Leal, Lucie Morin, Isabelle Malhamé, Raluca Pana, Anick Bérard   +13 more
wiley   +1 more source

Pfeiffer-like Syndrome With Holoprosencephaly: A Newborn With Maternal Smoking and Alcohol Exposure

Pediatrics and Neonatology, 2009
We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome.
Pen-Hua Su, Jia-Yuh Chen, Inn-Chi Lee, Yan-Yan Ng, Jui-Ming Hu, Suh-Jen Chen   +5 more
doaj   +1 more source

Determining the timeline of gonadal and genital differentiation in male and female equine fetuses allows for early detection and intervention in malformations

The Anatomical Record, EarlyView.
Abstract Sexual differentiation in the equine fetus involves coordinated morphogenetic processes that shape both the gonads and the genital ducts. Although the formation of testes and ovaries has been relatively well documented, the temporal dynamics and morphometric patterns of the mesonephric (Wolffian) and paramesonephric (Müllerian) ducts remain ...
Tais Harumi de Castro Sasahara, Silvio Pires Gomes, Fabio Cesar Magioli Abdala, Bruno Cesar Schimming, Maria Angelica Miglino   +4 more
wiley   +1 more source

The Influence of FASD on Psychiatric Disorders

Journal of Education, Health and Sport
 The Fetal Alcohol Spectrum Disorders (FASD) encompass a variety of physical, behavioral and neurological disorders resulting from fetal alcohol exposure.
Alicja Staszek, Wiktoria Łoskot, Jan Szwech, Mateusz Matczak, Karol Jasiński, Ewa Dubniewicz, Paula Majewska, Aleksandra Broda, Kacper Hoksa, Krzysztof Jodłowski   +9 more
doaj   +1 more source

Population-based prevalence of fetal alcohol spectrum disorder in Canada

BMC Public Health, 2019
Background Fetal alcohol spectrum disorder (FASD) is one of the most disabling potential outcomes of prenatal alcohol exposure. The population-based prevalence of FASD among the general population of Canada was unknown. The objective of this study was to
Svetlana Popova, Shannon Lange, Vladimir Poznyak, Albert E. Chudley, Kevin D. Shield, James N. Reynolds, Margaret Murray, Jürgen Rehm   +7 more
doaj   +1 more source

Functional connectivity of cognition-related brain networks in adults with fetal alcohol syndrome. [PDF]

BMC Med, 2023
Sundermann B, Feldmann R, Mathys C, Rau JMH, Garde S, Braje A, Weglage J, Pfleiderer B.   +7 more
europepmc   +1 more source

Mucosal‐Associated Invariant T Cells in Rheumatic Diseases

Arthritis &Rheumatology, EarlyView.
Mucosal‐associated invariant T (MAIT) cells are innate‐like T cells defined by their semi‐invariant T cell receptor and restriction by the major histocompatibility complex class I–related molecule (MR1). These cells are primarily activated by microbial‐derived metabolites presented by MR1 or by cytokines.
Manon Lesturgie‐Talarek, Virginie Gonzalez, Lucie Beaudoin, Noémie Sénot, Corinne Miceli‐Richard, Yannick Allanore, Agnès Lehuen, Jerôme Avouac   +7 more
wiley   +1 more source