Literature DB >> 12471207

Longevity in Schimke immuno-osseous dysplasia.

S Lou, P Lamfers, N McGuire, C F Boerkoel.   

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Year:  2002        PMID： 12471207      PMCID： PMC1757210          DOI： 10.1136/jmg.39.12.922

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

1.  Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia.

Authors:  K Sauerstein; M Schroth; K Amann; J Hoyer; H Singer; A Rauch; J Dötsch
Journal:  Eur J Pediatr       Date:  2006-12-29       Impact factor: 3.183

2.  An unusual cause of nephrotic syndrome: Answers.

Authors:  Zeynep Yuruk Yildirim; Melis Ozkan; Alev Yilmaz; Hülya Kayserili; Cemile Pehlivanoglu; Sevinc Emre; Ahmet Nayir
Journal:  Pediatr Nephrol       Date:  2018-11-07       Impact factor: 3.714

3.  Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis.

Authors:  Sanjay Sarin; Ashkan Javidan; Felix Boivin; Iakovina Alexopoulou; Dusan Lukic; Bruno Svajger; Stephanie Chu; Alireza Baradaran-Heravi; Cornelius F Boerkoel; Norman D Rosenblum; Darren Bridgewater
Journal:  J Histochem Cytochem       Date:  2014-10-15       Impact factor: 2.479

4.  Membranous nephropathy in Schimke immuno-osseous dysplasia.

Authors:  Nihal Ozdemir; Harika Alpay; Abdullah Bereket; Gamze Bereket; Neşe Biyikli; Metin Aydoğan; Fulya Cakalağoğlu; Işin Kiliçaslan; Ihsan Akpinar
Journal:  Pediatr Nephrol       Date:  2006-03-29       Impact factor: 3.714

5.  Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia.

Authors:  Marie Morimoto; Kunho Choi; Cornelius F Boerkoel; Kyoung Sang Cho
Journal:  Nucleus       Date:  2016-11       Impact factor: 4.197

6.  Mitochondrial function in schimke-immunoosseous dysplasia.

Authors:  Thomas Lücke; Jochen H H Ehrich; Anibh M Das
Journal:  Metab Brain Dis       Date:  2005-09       Impact factor: 3.584

7.  Annealing of Complementary DNA Sequences During Double-Strand Break Repair in Drosophila Is Mediated by the Ortholog of SMARCAL1.

Authors:  Julie Korda Holsclaw; Jeff Sekelsky
Journal:  Genetics       Date:  2017-03-03       Impact factor: 4.562

8.  Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia.

Authors:  M Gendronneau; O Kérourédan; S Taque; J L Sixou; M Bonnaure-Mallet
Journal:  Eur Arch Paediatr Dent       Date:  2013-12-11

9.  Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient.

Authors:  Amos J Simon; Atar Lev; Marta Jeison; Zvi U Borochowitz; David Korn; Yaniv Lerenthal; Raz Somech
Journal:  J Clin Immunol       Date:  2013-11-07       Impact factor: 8.317

10.  Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.

Authors:  Clinton Carroll; Akosua Badu-Nkansah; Tracy Hunley; Alireza Baradaran-Heravi; David Cortez; Haydar Frangoul
Journal:  Pediatr Blood Cancer       Date:  2013-04-29       Impact factor: 3.167
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