Pages that link to "Q24534222"
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The following pages link to High frequency of large intragenic deletions in the Fanconi anemia group A gene (Q24534222):
Displaying 50 items.
- Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts (Q24290928) (← links)
- Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs (Q24535643) (← links)
- Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa (Q24595193) (← links)
- Fanconi anaemia (Q24678530) (← links)
- Biased exon/intron distribution of cryptic and de novo 3' splice sites (Q24817064) (← links)
- The emerging genetic and molecular basis of Fanconi anaemia (Q28199075) (← links)
- AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia. (Q30371243) (← links)
- Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. (Q33698638) (← links)
- Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments (Q33961119) (← links)
- BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension (Q34043809) (← links)
- Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum (Q34113251) (← links)
- Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing (Q34144140) (← links)
- Erythropoiesis: Current Clinical Practice: Advances in the Genetics and Biology of Fanconi Anaemia (Q34278265) (← links)
- Molecular genetics of pseudoxanthoma elasticum (Q34330016) (← links)
- Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes (Q34352077) (← links)
- Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity (Q34798007) (← links)
- The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors (Q34804028) (← links)
- Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations (Q34870512) (← links)
- Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes (Q35532131) (← links)
- A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing. (Q35626683) (← links)
- Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction (Q35789823) (← links)
- FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients (Q35901424) (← links)
- Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology (Q36411281) (← links)
- Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer (Q36754598) (← links)
- Investigation of FANCA gene in Fanconi anaemia patients in Iran (Q36876769) (← links)
- Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization (Q37218218) (← links)
- High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis. (Q37649522) (← links)
- Analysis of the Fanconi anaemia complementation group A gene in acute myeloid leukaemia. (Q38355782) (← links)
- Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia (Q38449075) (← links)
- The clinical impact of copy number variants in inherited bone marrow failure syndromes (Q38687247) (← links)
- Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization (Q39113625) (← links)
- FAVL impairment of the Fanconi anemia pathway promotes the development of human bladder cancer (Q39308862) (← links)
- Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. (Q39507711) (← links)
- Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents (Q39699084) (← links)
- Validation of Fanconi anemia complementation Group A assignment using molecular analysis. (Q39861009) (← links)
- Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool. (Q40729739) (← links)
- Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. (Q41133980) (← links)
- Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions (Q41876541) (← links)
- Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome (Q42550062) (← links)
- Myeloid lineage-selective growth of revertant cells in Fanconi anaemia (Q43559622) (← links)
- FANCA and FANCG are the major Fanconi anemia genes in the Korean population (Q43854544) (← links)
- Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. (Q46477823) (← links)
- Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. (Q47262970) (← links)
- Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs (Q47837050) (← links)
- A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. (Q48370083) (← links)
- Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. (Q52060614) (← links)
- Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. (Q55059137) (← links)
- Long CTG.CAG repeat sequences markedly stimulate intramolecular recombination (Q74229263) (← links)
- Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population (Q80954103) (← links)
- Genetic subtyping of Fanconi anemia by comprehensive mutation screening (Q81412971) (← links)