Results 241 to 250 of about 347,112 (305)

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

Early US Prenatal Diagnosis and Serial Imaging Confirmation of Hydrometrocolpos with Uterine Didelphys and Cloacal Malformation: A Rare Case of Combined Müllerian Duct and Anorectal Anomaly. [PDF]

Int Med Case Rep J
Soveyzi F, Aleebrahim-Dehkordi E, Jandaghi J, Soleimani H.   +3 more
europepmc   +1 more source

Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the <i>FAM149B1</i> gene. [PDF]

Intractable Rare Dis Res
Liu J, Wu Y, Xu S, Qin Y, Li G, Chen Y, Li L, Liu F, Li S, Li N, Wang J.   +10 more
europepmc   +1 more source

A lifespan pooled analysis of 832 cases: characterizing the lifespan profile of clinical presentations and comorbidities in congenital pulmonary airway malformation. [PDF]

Orphanet J Rare Dis
Cheng X, Meng C, Nie L, Li Z, Liu J.
europepmc   +1 more source

Transcript- and Protein-Level Preservation and Spatial Reorganization of EMT and Vascular-Mesenchymal Gene Programs (<i>SNAI1</i>, <i>TGFB1</i>, <i>PECAM1</i>, <i>VIM</i>) in Human Fetal Kidneys with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). [PDF]

Genes (Basel)
Bavčević L, Racetin A, Todorović P, Kostić S, Zekić Tomaš S, Vukojević K, Kelam N.   +6 more
europepmc   +1 more source

Congenital Pulmonary Airway Malformations in Children: Beyond the Pulmonary Cystic Lesion Is There Really an Associated Laryngo-Tracheal Abnormality? [PDF]

Pediatr Pulmonol
Bulfamante AM, Pierucci UM, Imbrogno G, Leon LAO, Pelizzo G.   +4 more
europepmc   +1 more source

Prenatal Diagnosis and Perinatal Outcomes of Posterior Fossa Anomalies in a Tertiary Referral Center: A Five-Year Experience. [PDF]

Medicina (Kaunas)
Alpay V, Ersan F, Boza B, Makul M, Polat İ, Gümüş AA.   +5 more
europepmc   +1 more source