Results 231 to 240 of about 381,397 (291)

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Beyond associations: Navigating the safety of non-steroidal anti-inflammatory drugs (NSAIDs) in early pregnancy. [PDF]

PLoS Med
Yuen ASC, Man KKC.
europepmc   +1 more source

Prenatal Diagnosis of an Isolated Persistent Left Superior Vena Cava With Absent Right Superior Vena Cava: A Case Report. [PDF]

Cureus
Abe Y, Tanaka K, Ikenoue S, Ogawa M, Shiraishi S.   +4 more
europepmc   +1 more source

Correction: Comparative Safety of Antipsychotic Medications and Mood Stabilizers During Pregnancy: A Systematic Review and Network Meta-analysis of Congenital Malformations and Prenatal Outcomes. [PDF]

CNS Drugs
Wang E, Liu Y, Wang Y, Han X, Zhou Y, Zhang L, Tang Y.   +6 more
europepmc   +1 more source

Impact of GLP-1 and GLP-1/GIP receptor agonists before, during, and after pregnancy: a narrative review. [PDF]

Diabetol Metab Syndr
Zajdenverg L, Santos VM, Rodrigues ACM, Previdelli LK, Negrato CA.   +4 more
europepmc   +1 more source

Pregnancy Outcomes After Belatacept Exposure in Solid Organ Transplant Recipients: A Scoping Review. [PDF]

Healthcare (Basel)
Tawhari I, Alotaibi M, El Hennawy H, Yamani F, Alqahtani M, Asiri K, Tawhari M.   +6 more
europepmc   +1 more source

Topical retinoids and risk of major congenital malformations and spontaneous abortion: a systematic review and meta-analysis. [PDF]

Front Drug Saf Regul
Alali AB, Alhammad FA, Almohammed Saleh JA, Alshaikh SB, Alshayeb ZK, Al Nujaidi AJ, Albinsaleh AA, Almutawah MR, Alhodibi MH, Albesher MA.   +9 more
europepmc   +1 more source