Results 191 to 200 of about 51,379 (259)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Case Report: Fetal growth restriction and prolonged gestation associated with umbilical cord torsion and entanglement in a Holstein dairy cow. [PDF]

Front Vet Sci
Ohsaki K, Sano Y, Murakami T, Ishiguro Y, Ohtake A, Sato A, Nakada K, Sugiura T.   +7 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

The hormonal and neural control of maternal aggression. [PDF]

Curr Opin Neurobiol
Yamaguchi T, Lin D.
europepmc   +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

Restricted mating windows and thrombospondin 2 gene deletion improve the precision of parturition timing in mice†. [PDF]

Biol Reprod
Rogers JH, Martin-Fairey C, Boatwright N, Brown AJ, Charron E, Siricilla S, McCarthy R, England SK, Paria BC, Mahadevan-Jansen A, Reese J, Herington JL.   +11 more
europepmc   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Performance, blood parameters, ruminal fermentation and microbial community of dairy cows supplemented with Saccharomyces cerevisiae fermentation product from dry-off to early lactation. [PDF]

J Anim Sci
Xu Y, Xiao J, Zhuang Y, Gao D, Jiang W, Hou G, Zhao X, Li S, Chen T, Li S, Zhang S, Huang Y, Liu S, Yoon I, Shi W, Li M, Wang W, Li S, Cao Z.   +18 more
europepmc   +1 more source

Evaluating the efficacy of injectable antioxidant AD3EC on oxidative stress biomarkers in Raini cashmere goats. [PDF]

BMC Vet Res
Saeedian A, Mazrouei Sebdani M, Shamsaddini Bafti M, Kargar N.   +3 more
europepmc   +1 more source

Synching with seasonality: Predicting roe deer parturition phenology across its distributional range. [PDF]

J Anim Ecol
Kauffert J, Hewison AJM, Gehr B, Hothorn T, Baur S, Gaillard JM, Kjellander P, König A, Müller J, Panzacchi M, Pellerin M, Tamasi B, Peters W, Menzel A.   +13 more
europepmc   +1 more source