Longevity in Schimke immuno-osseous dysplasia

No abstract is available for this paper.

• Publication year

  2002

• Venue

  Journal of Medical Genetics

• Publication date

  2002-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.39.12.922PMID 12471207PMCID PMC1757210
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Literature abstracts

  2004cited by this paper
• Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

  2002cited by this paper
• ATP-dependent chromatin remodeling activities

  2001cited by this paper
• Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

  2000cited by this paper
• Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia.

  2000cited by this paper
• Pretargeted Radioimmunotherapy of Non-Hodgkin's Lymphoma: Best of Both Worlds?

  2000cited by this paper
• Schimke immuno-osseous dysplasia: case report and review of 25 patients

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• Transcription Factors and Human Disease

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• Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.

  1998cited by this paper
• Schimke immuno-osseous dysplasia: a case report.

  1998cited by this paper
• Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia).

  1997cited by this paper
• SWI2/SNF2 and related proteins: ATP-driven motors that disrupt protein-DNA interactions?

  1997cited by this paper
• Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia).

  1997cited by this paper
• Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia.

  1995cited by this paper
• Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings

  1995cited by this paper
• Syndromal mental retardation due to mutations in a regulator of gene expression.

  1995cited by this paper
• Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia).

  1994cited by this paper
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  1994cited by this paper
• Schimke immuno-osseous dysplasia: case report and review.

  1993cited by this paper
• Schimke immuno-osseous dysplasia.

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• Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

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• Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.

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• A novel gross deletion in SMARCAL1 impairs DNA replication fork regression, leading to severe Schimke immuno-osseous dysplasia; a literature review and an integrated study of clinical, genetic, and protein-protein interaction analysis

  2025cites this paper
• Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years

  2025cites this paper
• NHU CẦU VÀ KHẢ NĂNG CHI TRẢ CHO DỊCH VỤ CHĂM SÓC SỨC KHỎE TẠI NHÀ CỦA NGƯỜI CAO TUỔI TẠI HUYỆN PHÚ VANG, TỈNH THỪA THIÊN HUẾ

  2024cites this paper
• Loss of helicase C-terminal domain of SMARCAL1 protein associated with severe Schimke immuno-osseous dysplasia.

  2024cites this paper
• Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings

  2024cites this paper
• Steroid-resistant nephrotic syndrome with disproportionate short stature

  2023cites this paper
• T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent

  2022cites this paper
• Common presentations and diagnostic approaches

  2020cites this paper
• Schimke immuno-osseous dysplasia

  2020cites this paper
• Schimke Immunoosseous Dysplasia

  2020cites this paper
• Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD

  2019cites this paper
• Schimke immunoosseous dysplasia and management considerations for vascular risks

  2019cites this paper
• A Case Report of Schimke Immuno-Osseous Dysplasia: A Rare Autosomal Recessive Disorder

  2018cites this paper
• An unusual cause of nephrotic syndrome: Answers

  2018cites this paper
• Novel roles for the Drosophila melanogaster ortholog of SMARCAL1 in DNA damage repair

  2017cites this paper
• Annealing of Complementary DNA Sequences During Double-Strand Break Repair in Drosophila Is Mediated by the Ortholog of SMARCAL1

  2017cites this paper
• Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

  2017cites this paper
• Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia

  2016cites this paper
• Characterization of the disease pathogenesis of Schimke immuno-osseous dysplasia

  2016cites this paper
• Schimke Immunoosseous Dysplasia

  2016cites this paper
• Insights into the Renal Pathogenesis in Schimke Immuno-Osseous Dysplasia

  2015influential citation
• SMARCAL1 Negatively Regulates C-Myc Transcription By Altering The Conformation Of The Promoter Region

  2015cites this paper
• Tracheobronchial anomalies in a patient with Schimke immuno‐osseous dysplasia (SIOD)

  2015cites this paper
• Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia

  2014cites this paper
• Well-Known Combined Immune Deficiency Syndromes

  2014cites this paper
• Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient

  2013cites this paper
• Schimke immunoosseous dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child

  2013cites this paper
• Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia

  2013cites this paper
• A severily affected case with Schimke immuno-osseous dysplasia

  2012cites this paper
• Şiddetli seyirli Schimke immün kemik displazili olgu sunumu

  2012cites this paper
• Twenty‐four‐year‐old male patient with infantile onset of Schimke immuno‐osseous dysplasia

  2009cites this paper
• Neurologic Phenotype of Schimke Immuno-Osseous Dysplasia and Neurodevelopmental Expression of SMARCAL1

  2008cites this paper
• Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke‐immuno‐osseous dysplasia

  2008influential citation
• Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation

  2008cites this paper
• Other Well-Defined Immunodeficiencies

  2008cites this paper
• Combined T- and B-Cell Immunodeficiencies

  2008cites this paper
• Cerebellar atrophy in Schimke‐immuno‐osseous dysplasia

  2007cites this paper
• Schimke immunoosseous dysplasia: suggestions of genetic diversity

  2007cites this paper
• Pulmonary embolism—a rare complication of Schimke immunoosseous dysplasia

  2007cites this paper
• Schimke immuno-osseous dysplasia.

  2007cites this paper
• Vaso-occlusion in Schimke-immuno-osseous dysplasia: is the NO pathway involved?

  2006cites this paper
• A Unique Presentation of Immuno‐Osseous Dysplasia

  2006cites this paper
• Membranous nephropathy in Schimke immuno-osseous dysplasia

  2006cites this paper
• Vaso-occlusion in Schimke-immuno-osseous Dysplasia: Is the NO Pathway Involved?

  2006cites this paper
• Schimke-immunoossäre Dysplasie

  2006influential citation
• [Schimke immuno-osseous dysplasia. A pediatric disease reaches adulthood].

  2006cites this paper
• Nihal Özdemir . Harika Alpay . Abdullah Bereket . Gamze Bereket . Neş eB iyikli . Metin Aydoğan . Fulya Çakalağoğlu . Işi nK iliçaslan . İhsan Akpinar Membranous nephropathy in Schimke immuno-osseous dysplasia

  2006cites this paper
• Schimke immuno-osseous dysplasia: a clinicopathological correlation

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• R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia

  2005cites this paper
• Schimke‐immuno‐osseous dysplasia: New mutation with weak genotype–phenotype correlation in siblings

  2005influential citation
• Mitochondrial Function in Schimke-Immunoosseous Dysplasia

  2005cites this paper