Results 111 to 120 of about 12,421 (264)

#6359 DAPAGLIFLOZIN TREATMENT IN AUTOSOMAL DOMINANT ALPORT SYNDROME (ADAS) [PDF]

, 2023
Isabel Galán, Serena Gatius, A Galvez
openalex   +1 more source

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders [PDF]

, 2016
Bereczki Csaba, Endreffy Emőke, Haszon Ibolya, Iványi Béla, Kalmár Tibor, Kovács Gábor, Maróti Zoltán, Ondrik Zoltán, Rikker Csaba, Sinkó Mária, Túri Sándor   +10 more
core   +1 more source

Clinical utility gene card for: Alport syndrome [PDF]

, 2011
Flinter, Frances, Hertz, Jens Michael, Storey, Helen, Thomassen, Mads   +3 more
core   +1 more source

The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report

Frontiers in Pediatrics
BackgroundAlport syndrome is an inherited glomerular disease that leads to progressive kidney failure, hearing loss, and eye problems. Diagnosis mostly relies on tests of tissue pathology and genetic analysis.
Dayan Wang, Dayan Wang, Xiaobing Li, Xiaobing Li, Kaichao Cheng, Kaichao Cheng, Lanjin Zheng, Lanjin Zheng, Pengfei Yu, Pengfei Yu, Panjian Lai, Panjian Lai   +11 more
doaj   +1 more source

#1607 Prevalence and risk factors of aortic root dilatation in children with X-linked Alport syndrome [PDF]

Marina Aksenova, Konstantin Tutelman, Lilia Anykalchuk   +2 more
openalex   +1 more source

Poster Session 1

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

Autosomal Dominant Alport′s syndrome: Study of a Large Tunisian Family

Saudi Journal of Kidney Diseases and Transplantation, 2006
Alport′s syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport′s syndrome is often associated with sensorineural deafness
Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Hmida M, Gubler M, Ayadi H, Hachicha J   +10 more
doaj  

Alport's Syndrome

Ear, Nose & Throat Journal, 1992
S P, Andreoli, M, Deaton
openaire   +2 more sources

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome [PDF]

, 2020
INSERM
openalex   +1 more source

Understanding hereditary diseases using the dog and human as companion model systems [PDF]

, 2007
Kate L. Tsai, Leigh Anne Clark, Keith E. Murphy   +2 more
core   +1 more source