Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 41 Records) |
Query Trace: Nephrocalcinosis[original query] |
---|
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. Pediatric nephrology (Berlin, Germany) 2018 9 33 (12): 2281-2288. Khan Nicholas E, Ling Alexander, Raske Molly E, Harney Laura A, Carr Ann G, Field Amanda, Harris Anne K, Williams Gretchen M, Dehner Louis P, Messinger Yoav H, Hill D Ashley, Schultz Kris Ann P, Stewart Douglas |
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. Renal failure 2018 9 40 (1): 520-526. Liu Jiaojiao, Shen Qian, Li Guomin, Zhai Yihui, Fang Xiaoyan, Xu Ho |
Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations. Pediatric nephrology (Berlin, Germany) 2018 7 33 (10): 1723-1729. Hureaux Marguerite, Molin Arnaud, Jay Nadine, Saliou Anne Hélène, Spaggiari Emmanuel, Salomon Rémi, Benachi Alexandra, Vargas-Poussou Rosa, Heidet Lauren |
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatric nephrology (Berlin, Germany) 2018 5 33 (9): 1523-1529. Alonso-Varela Marta, Gil-Peña Helena, Coto Eliecer, Gómez Juan, Rodríguez Julián, Rodríguez-Rubio Enrique, Santos Fernando, |
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. Kidney & blood pressure research 2018 4 43 (2): 513-521. Park Eujin, Cho Myung Hyun, Hyun Hye Sun, Shin Jae Il, Lee Joo Hoon, Park Young Seo, Choi Hyun Jin, Kang Hee Gyung, Cheong Hae |
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. Journal of inherited metabolic disease 2018 2 41 (5): 865-876. Chesher Douglas, Oddy Michael, Darbar Ulpee, Sayal Parag, Casey Adrian, Ryan Aidan, Sechi Annalisa, Simister Charlotte, Waters Aoife, Wedatilake Yehani, Lachmann Robin H, Murphy Elai |
Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations. Pflugers Archiv : European journal of physiology 2018 12 471 (1): 137-148. Lederer Eleanor, Wagner Carsten |
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan. The Journal of pediatrics 2019 9 214 151-157.e6. Konishi Ken-Ichiro, Mizuochi Tatsuki, Yanagi Tadahiro, Watanabe Yoriko, Ohkubo Kazuhiro, Ohga Shouichi, Maruyama Hidehiko, Takeuchi Ichiro, Sekine Yuji, Masuda Kei, Kikuchi Nobuyuki, Yotsumoto Yuka, Ohtsuka Yasufumi, Tanaka Hidenori, Kudo Takahiro, Noguchi Atsuko, Fuwa Kazumasa, Mushiake Sotaro, Ida Shinobu, Fujishiro Jun, Yamashita Yushiro, Taguchi Tomoaki, Yamamoto K |
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. Neuromuscular disorders : NMD 2020 5 30 (6): 457-471. Abdel Aleem Alice, Elsaid Mahmoud F, Chalhoub Nader, Chakroun Almahdi, Mohamed Khalid A S, AlShami Rana, Kuzu Omer, Mohamed Reem B, Ibrahim Khalid, AlMudheki Noora, Osman Omar, Ross M Elizabeth, ELalamy Osa |
Etiological Profile of Nephrocalcinosis in Children from Southern India. Indian pediatrics 2020 3 57 (5): 415-419. Ramya Kagnur, Krishnamurthy Sriram, Sivamurukan Palanisa |
Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation. Journal of pediatric endocrinology & metabolism : JPEM 2021 9 34 (12): 1573-1584. Alikasifoglu Ayfer, Unsal Yagmur, Gonc Elmas Nazli, Ozon Zeynep Alev, Kandemir Nurgun, Alikasifoglu Mehm |
CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria. Hormone research in paediatrics 2021 7 94 (3-4): 124-132. Rousseau-Nepton Isabelle, Jones Glenville, Schlingmann Karlpiet, Kaufmann Martin, Zuijdwijk Caroline S, Khatchadourian Karine, Gupta Indra R, Pacaud Danièle, Pinsk Maury N, Mokashi Arati, Nour Munier A, Alexander R Todd, Rodd Celia |
High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency. Kidney international reports 2021 7 6 (7): 1895-1903. Hanna Christian, Potretzke Theodora A, Cogal Andrea G, Mkhaimer Yaman G, Tebben Peter J, Torres Vicente E, Lieske John C, Harris Peter C, Sas David J, Milliner Dawn S, Chebib Fouad |
Nephrocalcinosis: An interesting case. The National medical journal of India 2021 5 33 (4): 205-206. Subramanian Srinithya Vathi, Arul , Jegan , Prasad Ar |
Therapy with PTH 1-34 or calcitriol and calcium in diverse etiologies of hypoparathyroidism over 27 years at a single tertiary care center. Bone 2021 5 149 115977. Winer Karen K, Ye Shangyuan, Ferré Elise M N, Schmitt Monica M, Zhang Bo, Cutler Gordon B, Lionakis Michail |
Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations. Journal of nephrology 2021 4 34 (6): 2053-2062. Vall-Palomar Mònica, Burballa Carla, Claverie-Martín Félix, Meseguer Anna, Ariceta Ge |
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D. Frontiers in endocrinology 2021 11 12 736240. Molin Arnaud, Lemoine Sandrine, Kaufmann Martin, Breton Pierre, Nowoczyn Marie, Ballandonne Céline, Coudray Nadia, Mittre Hervé, Richard Nicolas, Ryckwaert Amélie, Lavillaureix Alinoe, Jones Glenville, Bacchetta Justine, Kottler Marie-Lau |
Idiopathic infantile hypercalcemia in children with chronic kidney disease due to kidney hypodysplasia. Pediatric nephrology (Berlin, Germany) 2022 9 38 (4): 1067-1073. Gurevich Evgenia, Borovitz Yael, Levi Shelli, Perlman Sharon, Landau Dani |
Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations. European journal of endocrinology 2022 7 187 (3): K27-K32. Dursun Fatma, Genc Hulya Maras, Mine Y?lmaz Ay?e, Tas Ibrahim, Eser Metin, Pehlivanoglu Cemile, Yilmaz Betul Karademir, Guran Tul |
Clinical Course of Patients with Bartter Syndrome. Iranian journal of kidney diseases 2022 6 16 (3): 162-170. Rodriges Jose Henrique Paiva, Menezes Silva Luiz Alberto Wanderley, Soares Silvia Bouissou Morais, Cruz Raissa Ritielle Oliveira, Mrad Flavia Cristina De Carvalho, Simoes E Silva Ana Cristi |
Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis. Cureus 2022 5 14 (3): e23616. Fatima Abdouss, Mohamed Ahakoud, Moustapha Hida, Karim Ould |
Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Molecular genetics and genomics : MGG 2022 May . Huang Lin, Qi Chang, Zhu Gaohong, Ding Juanjuan, Yuan Li, Sun Jie, He Xuelian, Wang Xiaow |
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genetics in medicine : official journal of the American College of Medical Genetics 2022 12 25 (3): 100351. Majmundar Amar J, Widmeier Eugen, Heneghan John F, Daga Ankana, Wu Chen-Han Wilfred, Buerger Florian, Hugo Hannah, Ullah Ihsan, Amar Ali, Ottlewski Isabel, Braun Daniela A, Jobst-Schwan Tilman, Lawson Jennifer A, Zahoor Muhammad Yasir, Rodig Nancy M, Tasic Velibor, Nelson Caleb P, Khaliq Shagufta, Schönauer Ria, Halbritter Jan, Sayer John A, Fathy Hanan M, Baum Michelle A, Shril Shirlee, Mane Shrikant, Alper Seth L, Hildebrandt Friedhe |
Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children. Turkish archives of pediatrics 2022 10 57 (6): 644-650. Huseynli Bahruz, Atm?? Bahriye, Cevizli Derya, Bi?gin At?l, Karabay Bayaz?t Ays |
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants. Clinical genetics 2022 10 103 (1): 53-66. Abid Aiysha, Raza Ali, Khan Abdul Rafay, Firasat Sadaf, Shahid Saba, Hashmi Seema, Zafar Mirza Naqi, Sultan Sajid, Khaliq Shagufta, Rizvi Syed Adib-Ul-Has |
Phenotypic and genotypic characteristics of children with Bartter syndrome. The Turkish journal of pediatrics 2022 10 64 (5): 825-838. Güven Serçin, Gökçe ?brahim, Alavanda Ceren, Çiçek Neslihan, Demirci Ece Bodur, Sak Mehtap, Pul Serim, Türkkan Özde Nisa, Y?ld?z Nurdan, Ata P?nar, Alpay Hari |
Etiology and prognosis of nephrocalcinosis according to gestational age in Korean children. BMC pediatrics 2023 9 23 (1): 451. Jinwoon Joung, Heeyeon C |
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients. Pediatric nephrology (Berlin, Germany) 2023 6 . Yukun Liu, Yucheng Ge, Ruichao Zhan, Zhenqiang Zhao, Jun Li, Wenying Wa |
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium. Kidney international reports 2023 10 8 (10): 2029-2042. Elisabeth L Metry, Sander F Garrelfs, Lisa J Deesker, Cecile Acquaviva, Viola D'Ambrosio, Justine Bacchetta, Bodo B Beck, Pierre Cochat, Laure Collard, Julien Hogan, Pietro Manuel Ferraro, Casper F M Franssen, Jérôme Harambat, Sally-Anne Hulton, Graham W Lipkin, Giorgia Mandrile, Cristina Martin-Higueras, Nilufar Mohebbi, Shabbir H Moochhala, Thomas J Neuhaus, Larisa Prikhodina, Eduardo Salido, Rezan Topaloglu, Michiel J S Oosterveld, Jaap W Groothoff, Hessel Peters-Senge |
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients. Calcified tissue international 2024 1 . A Bosman, N M Appelman-Dijkstra, A M Boot, M H de Borst, A C van de Ven, R T de Jongh, A Bökenkamp, J P van den Bergh, B C J van der Eerden, M C Zillike |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 06, 2024
- Content source: