Results 41 to 50 of about 365 (127)

Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice. [PDF]

J Am Soc Nephrol, 2023
Ghosh Roy S, Li Z, Guo Z, Tran Long K, Rehrl S, Tian X, Dong K, Besse W.   +7 more
europepmc   +1 more source

Pheochromocytoma in a patient with heterotaxy syndrome: a case report. [PDF]

BMC Endocr Disord
Rad FF, Esfahanian F, Hashemizadeh P, Mehrtabar E.   +3 more
europepmc   +1 more source

Situs Inversus Totalis: A Clinical Review. [PDF]

Int J Gen Med, 2022
Eitler K, Bibok A, Telkes G.
europepmc   +1 more source

Heterotaxy polysplenia syndrome with cholangiopancreatic cancer: a case report and literature review. [PDF]

Front Med (Lausanne)
Chen Z, Chen YA, Wang X, Song W, Geng Y, Wang P, Kong S, Dong J, Bai H, Wang Y.   +9 more
europepmc   +1 more source

1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case. [PDF]

Curr Issues Mol Biol
Minelli M, Palka Bayard de Volo C, Alfonsi M, Capanna S, Morizio E, Miscia ME, Lisi G, Stuppia L, Gatta V.   +8 more
europepmc   +1 more source

Pediatric Congenital Lung Malformation: Advanced Imaging Techniques in Pre- and Neonatal Evaluation. [PDF]

Diagnostics (Basel)
Masselli G, Di Bella C, Hadjidekov G, Carnelli C, Morini F, Ceccanti S, Midulla F, Cozzi DA.   +7 more
europepmc   +1 more source

Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia. [PDF]

Mol Cytogenet, 2021
Oszer A, Bąbol-Pokora K, Kołtan S, Pastorczak A, Młynarski W.   +4 more
europepmc   +1 more source

Fetal MRI: abdominal cystic lesions. [PDF]

Insights Imaging
Castellanos DG, Rodríguez MR, Greciano LS, Del Hoyo AA, Moreno AD, Alcolea JL, Sampietro C, de Vega VM.   +7 more
europepmc   +1 more source

A multi-disciplinary, comprehensive approach to management of children with heterotaxy. [PDF]

Orphanet J Rare Dis, 2022
Saba TG, Geddes GC, Ware SM, Schidlow DN, Del Nido PJ, Rubalcava NS, Gadepalli SK, Stillwell T, Griffiths A, Bennett Murphy LM, Barber AT, Leigh MW, Sabin N, Shapiro AJ.   +13 more
europepmc   +1 more source

SDF2 and SDF2L1 are essential co-factors of DNAJB11 for Polycystin-1 processing. [PDF]

J Biol Chem
Busch T, Neubauer B, Sediq S, Zeisler PC, Tholen S, Schilling O, Westermann L, Köttgen M.   +7 more
europepmc   +1 more source