Results 261 to 270 of about 67,545 (327)

International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis, Laura Agresta, William E. Bennett Jr, Henry Chambers, Antonia Clarke, Charlie Fairhurst, Julie Hoover‐Fong, Feilim Murphy, Garey Noritz, Scott Schwantes, Michael Shreve, Kabelo Thusang, Darcy Weidemann, Rebecca Beale, Aditi Mehta, Andrew Wilhelmsen, Nuala Summerfield   +16 more
wiley   +1 more source

Congenital Rubella Syndrome in the Post-Elimination Era: Why Vigilance Remains Essential. [PDF]

J Clin Med
De Melo LC, Rugna MM, Durães TA, Pereira SS, Callado GY, Pires P, Traina E, Araujo Júnior E, Granese R.   +8 more
europepmc   +1 more source

Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 4, June 2025.
ABSTRACT Externalizing traits and behaviors are broadly defined by impairments in self‐regulation and impulse control that typically begin in childhood and adolescence. Externalizing behaviors, traits, and symptoms span a range of traditional psychiatric diagnostic categories.
India A. Reddy, Lide Han, Sandra Sanchez‐Roige, Maria Niarchou, Douglas M. Ruderfer, Lea K. Davis   +5 more
wiley   +1 more source

Prenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review. [PDF]

Medicine (Baltimore)
Xie JL, Jiang CY, Sun PP, Zhang Y, Sun N, Luan SX.   +5 more
europepmc   +1 more source

Open Lip Schizencephaly Misdiagnosed as Paralytic Poliomyelitis in an 85‐Year‐Old: A Case Report

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT The variable clinical presentations of open lip schizencephaly can lead to misdiagnosis, as occurred in this case originally misdiagnosed as polio in the 1930s. This case demonstrates the possible presence of confirmation bias, as the original poliomyelitis diagnosis remained unquestioned despite developments in the fields of Radiology and ...
Zihan Guo, Patricia D. Scripko, Alida M. Gertz   +2 more
wiley   +1 more source

Congenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome. [PDF]

Viruses
Ribeiro BFR, Barreto ARF, Pessoa A, Azevedo RDSDS, Rodrigues FF, Borges BDCB, Mantilla NPM, Muniz DD, Chiang JO, Fraga LR, Vianna FSL, Sanseverino MTV, Faccini LS, Martins FEDN, Azevedo RDS, Martins LC, Casseb LMN, Oliveira CS, Vasconcelos PFDC, Quaresma JAS, Abeche AM, Prazeres VMG, Oliveira LAN, Karam SM, Radin G, Del Campo M, Ventura CV, Schuler-Faccini L.   +27 more
europepmc   +1 more source

CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies

Journal of Cell Communication and Signaling, Volume 19, Issue 2, June 2025.
Abstract CEP162, a 162‐kDa centrosome protein, is a crucial centrosomal adapter, mediating cell differentiation and polarization. CEP162 maintains mitosis by dynamically stabilizing microtubules. CEP162 promotes the transition zone (TZ) assembly in the basal body through interaction with CEP131, CEP290, and axoneme microtubules as well as the distal ...
Jun Yin, Jialian Bai, Xiaochong He, Wenjuan He, Hongming Miao, Mengjie Zhang, Zhongying Yu, Bing Ni   +7 more
wiley   +1 more source

Faculty Opinions recommendation of Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

, 2009
Joseph Higgins
openalex   +2 more sources

Distinct Facial Dysmorphisms in a Child with Renpenning Syndrome. [PDF]

Ann Indian Acad Neurol
Kanagavel Y, Manokaran RK.
europepmc   +1 more source

GRIN2B alleviates mid‐gestational sevoflurane exposure‐induced early differentiation of rat neural stem cells by interacting with KIF17

Journal of Cell Communication and Signaling, Volume 19, Issue 2, June 2025.
GRIN2B suppresses early differentiation of neural stem cells induced by repeated mid‐gestational sevoflurane exposure and promotes their proliferation by interacting with KIF17. Abstract General anesthetic exposure during pregnancy has neurotoxic effects on the developing brain, causing long‐term cognitive dysfunction in the offspring.
Mengyuan Li, Yan Hu, Zhonggui Cheng, Qianqian Li   +3 more
wiley   +1 more source