Results 271 to 280 of about 519,978 (362)

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

Myopia in newborn.

Indian journal of ophthalmology, 1983
Mukherji Ranabir, Roy Anita, Chatterjee Sanat   +2 more
openaire   +2 more sources

Hair Cortisol Concentrations in Children: A Longitudinal Analysis Across Childhood. [PDF]

Dev Psychobiol
Baos-González MÁ, De Echarri-Lorente J, García-León MÁ, González-Pérez R, Peralta-Ramírez MI.   +4 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

Lymphocytic Choriomeningitis Virus Seroprevalence among Urban Pregnant Women and Newborns, Philadelphia, Pennsylvania, USA, 2021. [PDF]

Emerg Infect Dis
Flannery DD, Cossaboom CM, Flietstra TD, Barboza AZ, Burris HH, Puopolo KM, Gibbons A, Cannon DL, Krapiunaya I, Sayyad L, Sadigh KS, Smith K, Montgomery JM, Shoemaker T, Klena JD, Gordon SM.   +15 more
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

Strategies to reduce antimicrobial resistance in newborns in low-income and middle-income countries: a systematic review and meta-analysis.

Lancet Glob Health
Him RL, Sihota D, Harrison L, Dramowski A, Coffin SE, Hamer DH, Bhutta ZA.   +6 more
europepmc   +1 more source

Impact of electrocardiogram monitoring on the frequency of tracheal intubation at birth. [PDF]

J Pediatr (Rio J)
de Souza Freire T, Kawakami MD, de Almeida MF, Guinsburg R.   +3 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Comparison of intraepidermal nerve fibre density among different age groups in healthy dogs. [PDF]

Vet Res Commun
Mt M, Giglia G, Arcaro S, Bergmann W, Zelli R, Di Salvo A, Della Rocca G.   +6 more
europepmc   +1 more source