Results 91 to 100 of about 131,131 (300)

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  

Hereditary Optic Neuropathy (Leber\u27s Hereditary Optic Neuropathy)

, 2022
Hereditary Optic Neuropathy - A hereditary optic neuropathy is caused by a genetic variant (or mutation) that causes dysfunction of the neurons (nerve cells) which form the optic nerve.
NANOS
core  

Clinical Model‐Informed Precision Dosing Consult Service for Accelerating Personalized Medication in Pediatric Patients

Clinical Pharmacology &Therapeutics, EarlyView.
Traditional dosing strategies often rely on a “one‐size‐fits‐all” paradigm, assuming an “average” patient with typical demographic and pharmacological characteristics. In reality, this often overlooks existing between‐patient variability and can lead to suboptimal drug exposure or toxicity. This issue is especially pronounced in pediatric patients, who
Zachary L. Taylor, Takanobu Nadai, Kei Irie, Wen Rui Tan, Sanjana Parikh, Anhar Hosawi, Matthijs W. van Hoogdalem, Ronaldo Morales Junior, Sonya Tang Girdwood, Abbie D. Leino, Kana Mizuno, Alexander A. Vinks, Tomoyuki Mizuno   +12 more
wiley   +1 more source

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child

Oman Medical Journal
Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary
Intisar Al Alawi, Maryam Al Shehhi, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer   +6 more
doaj   +1 more source

Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis [PDF]

, 2005
Apolipoprotein A-I amyloidosis is a rare, late-onset, autosomal dominant condition characterized by systemic deposition of amyloid in tissues, the major clinical problems being related to renal, hepatic, and cardiac involvement. Described is the clinical
Merlini G, Izzi C, CAPISTRANO M., SCOLARI F., SCOLARI, Francesco, Viola BF, Biasi L, ROCKEN C., Gregorini G, Donadei S, VIOLA B. F., Röcken C, MERLINI, GIAMPAOLO, Scalvini T, BIASI, LUIGI, Tardanico R, Capistrano M, Obici L, GREGORINI G., DONADEI S., IZZI C., TARDANICO R., OBICI L., SCALVINI T.   +23 more
core   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome

Kidney International Reports, 2017
X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity ...
Tomohiko Yamamura, Kandai Nozu, Xue Jun Fu, Yoshimi Nozu, Ming Juan Ye, Akemi Shono, Satoko Yamanouchi, Shogo Minamikawa, Naoya Morisada, Koichi Nakanishi, Yuko Shima, Norishige Yoshikawa, Takeshi Ninchoji, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima   +15 more
doaj   +1 more source

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]

, 2003
BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Flanagan, J A, Gruenig, E, Sankelo, M, Halme, M, Elliott, C G, Laitinen, T, Morrell, N W, Trembath, R C, Räisänen-Sokolowski, A, Olschewski, H, Harrison, R E, Robbins, I M, Kermeen, F, Abdalla, S A, Rowell, J, Machado, R D, McLaughlin, V   +16 more
core   +1 more source

Reassessing the role of antiphospholipid antibodies in placental‐mediated adverse pregnancy outcomes in systemic lupus erythematosus: A retrospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To examine how different antiphospholipid antibody (aPL) profiles influence placental‐mediated adverse pregnancy outcomes (APOs) in women with systemic lupus erythematosus (SLE). Methods This retrospective cohort study included 245 pregnant women with SLE and 490 controls from a single center.
Meng Jiang, Yanling Chang, Ning Zhang, Wen Di, Jiayue Wu   +4 more
wiley   +1 more source

Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney

Kidney International Reports
Introduction: Recent genetic studies have shown that Alport syndrome (AS) is much more prevalent than clinically recognized, suggesting that atypical cases may phenocopy other kidney diseases.
Lisa Loderbauer, Karl X. Knaup, Daniel Reisenbüchler, Nicolas Kaiser, Stephanie Naas, Karen Schneider, Florian J. Wopperer, Antje Wiesener, Francesca Pasutto, Mario Schiffer, Christoph Daniel, Katharina A.E. Broeker, Dorit Merhof, Maike Buettner-Herold, Michael S. Wiesener   +14 more
doaj   +1 more source