Results 101 to 110 of about 5,140 (191)

A Rare Genetic Association of an <i>NPHP2</i> Mutation With Nephronophthisis in a Child With Bombay Blood Group. [PDF]

J Med Cases
Leghrouz B, Hindi T, Hilo I, Ballout A, Hindiyeh M.   +4 more
europepmc   +1 more source

Breakpoint-level characterization of a novel CEP290 tandem duplication in trans with a pathogenic splice-site variant in a patient with Leber congenital amaurosis. [PDF]

BMC Med Genomics
Xu S, Geng J, Xiong W, Liu M, Wang C, Wang X, Tang T, Zhang Q, Yuan H, Lu Y.   +9 more
europepmc   +1 more source

Preimplantation genetic testing for concurrent Meckel Syndrome and hereditary breast cancer in a Chinese family harboring a novel NPHP3 pathogenic variant and a canonical BRCA2 frameshift variant. [PDF]

Genet Mol Biol
Zhang Y, Huang X, Qiu P, Ji H, Ding L, He X, Shi Y, Huang Y, Li P, Mei L.   +9 more
europepmc   +1 more source

Combined Liver-Kidney Transplantation in Pediatric Patients From Colombia: A Case Series. [PDF]

Pediatr Transplant
Padilla-Guzmán A, Ortega-Gamboa SA, Forero-Delgadillo JM, Ochoa-Jiménez VA, Portilla-Buenaventura AM, Mateus CJC, Botero-Osorio V, Pachajoa H, Restrepo JM.   +8 more
europepmc   +1 more source

Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome. [PDF]

J Clin Med
Li M, Li S, Cao Y, Sun A, Qu J.
europepmc   +1 more source

Renal Tubule-Specific Deletion of Nephrocystin 3 <i>(Nphp3)</i> Causes Infantile Nephronophthisis-like Phenotypes in Mice. [PDF]

Int J Mol Sci
Du X, Wang C, Fang Y, Wang G, Zhai Y, Shen Q, Tang X, Xu H.   +7 more
europepmc   +1 more source

From Variant of Uncertain Significance to Likely Pathogenic: Adult-Onset Nephronophthisis Linked to NPHP4 p.T680M. [PDF]

Kidney Int Rep
Sıla Koç N.
europepmc   +1 more source

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations. [PDF]

Hum Mutat
Webster Z, Woods L, Dalziel R, Drake K, de Valles-Ibáñez G, Poke G.   +5 more
europepmc   +1 more source

Response to the Letter to the Editor Entitled "From Variant of Unknown Significance to Likely Pathogenic: Adult-Onset - Nephronophthisis Linked to NPHP4 p.T680M". [PDF]

Kidney Int Rep
König JC, Dahmer-Heath M, Konrad M.
europepmc   +1 more source

Urinary Peptidomic Signature for Noninvasive Diagnosis of Alport Syndrome in Children. [PDF]

Kidney Int Rep
Byrska J, Boeckhaus J, Voutsadaki K, Breuil B, Delecroix E, Murunga S, Buffin-Meyer B, Becknell B, McLeod D, Burgmaier K, Liebau MC, Schaefer F, Siwy J, Mischak H, Kondyli M, Decramer S, Sanchez-Niño MD, Ortiz A, Gross O, Schanstra JP.   +19 more
europepmc   +1 more source