Iris Schrijver

Summary

Affiliation: Stanford University Medical Center
Country: USA

Publications

  1. ncbi request reprint Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis
    Iris Schrijver
    Stanford University School of Medicine, Department of Pathology and Pediatrics, L235, 300 Pasteur Drive, Stanford, CA 94305, USA
    Expert Rev Mol Diagn 6:375-86. 2006
  2. pmc Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice
    Juan Rodriguez-Paris
    Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America
    PLoS ONE 5:e11804. 2010
  3. pmc Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
    Juan Rodriguez-Paris
    Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America
    PLoS ONE 6:e21665. 2011
  4. pmc Clinical application of high throughput molecular screening techniques for pharmacogenomics
    Arun P Wiita
    Department of Laboratory Medicine, University of California, San Francisco, CA, USA
    Pharmgenomics Pers Med 4:109-21. 2011
  5. ncbi request reprint Methods-based proficiency testing in molecular genetic pathology
    Iris Schrijver
    Department of Pathology, Stanford University Medical Center, Stanford, California Department of Pediatrics, Stanford University Medical Center, Stanford, California Electronic address
    J Mol Diagn 16:283-7. 2014
  6. doi request reprint Inherited hearing loss: molecular genetics and diagnostic testing
    Oana Vele
    Stanford University School of Medicine, Department of Pathology and Pediatrics, L235, 300 Pasteur Drive, Stanford, CA 94305, USA 1 650 724 2403 1 650 724 1567
    Expert Opin Med Diagn 2:231-48. 2008
  7. doi request reprint Integration of genomic medicine into pathology residency training: the stanford open curriculum
    Iris Schrijver
    Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
    J Mol Diagn 15:141-8. 2013
  8. doi request reprint Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology
    Iris Schrijver
    Whole Genome Analysis Working Group, Association for Molecular Pathology Clinical Practice Committee, Bethesda, Maryland, USA
    J Mol Diagn 14:525-40. 2012
  9. doi request reprint Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy
    Iris Schrijver
    Department of Pathology and Pediatrics, Stanford University Medical Center, Stanford, California 94305, USA
    Genet Med 11:118-26. 2009
  10. pmc Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories
    Iris Schrijver
    Department of Pathology and Pediatrics, Stanford University Medical Center, Stanford, CA 94305, USA
    J Mol Diagn 9:394-400. 2007

Detail Information

Publications56

  1. ncbi request reprint Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis
    Iris Schrijver
    Stanford University School of Medicine, Department of Pathology and Pediatrics, L235, 300 Pasteur Drive, Stanford, CA 94305, USA
    Expert Rev Mol Diagn 6:375-86. 2006
    ....
  2. pmc Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice
    Juan Rodriguez-Paris
    Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America
    PLoS ONE 5:e11804. 2010
    ..Such future modification of the flexible configuration of the Hereditary Hearing Loss Arrayed Primer Extension microarray would improve its impact as a diagnostic tool...
  3. pmc Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)
    Juan Rodriguez-Paris
    Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America
    PLoS ONE 6:e21665. 2011
    ..Our study clearly corroborates the hypothesis that the del(GJB6-D13S1854), similar to the larger and more common del(GJB6-D13S1830), removes (a) putative cis-regulatory element(s) upstream of GJB6 and narrows down the region of location...
  4. pmc Clinical application of high throughput molecular screening techniques for pharmacogenomics
    Arun P Wiita
    Department of Laboratory Medicine, University of California, San Francisco, CA, USA
    Pharmgenomics Pers Med 4:109-21. 2011
    ..These complexities must be taken into account prior to the introduction of any pharmacogenomic biomarker into routine clinical testing...
  5. ncbi request reprint Methods-based proficiency testing in molecular genetic pathology
    Iris Schrijver
    Department of Pathology, Stanford University Medical Center, Stanford, California Department of Pediatrics, Stanford University Medical Center, Stanford, California Electronic address
    J Mol Diagn 16:283-7. 2014
    ....
  6. doi request reprint Inherited hearing loss: molecular genetics and diagnostic testing
    Oana Vele
    Stanford University School of Medicine, Department of Pathology and Pediatrics, L235, 300 Pasteur Drive, Stanford, CA 94305, USA 1 650 724 2403 1 650 724 1567
    Expert Opin Med Diagn 2:231-48. 2008
    ....
  7. doi request reprint Integration of genomic medicine into pathology residency training: the stanford open curriculum
    Iris Schrijver
    Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
    J Mol Diagn 15:141-8. 2013
    ..This curriculum is freely accessible online...
  8. doi request reprint Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology
    Iris Schrijver
    Whole Genome Analysis Working Group, Association for Molecular Pathology Clinical Practice Committee, Bethesda, Maryland, USA
    J Mol Diagn 14:525-40. 2012
    ..We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications...
  9. doi request reprint Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy
    Iris Schrijver
    Department of Pathology and Pediatrics, Stanford University Medical Center, Stanford, California 94305, USA
    Genet Med 11:118-26. 2009
    ..Mitochondrial DNA testing is typically performed by targeted mutation analysis only. We applied a more comprehensive approach to study the mitochondrial genome in 24 pediatric patients with idiopathic cardiomyopathy...
  10. pmc Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories
    Iris Schrijver
    Department of Pathology and Pediatrics, Stanford University Medical Center, Stanford, CA 94305, USA
    J Mol Diagn 9:394-400. 2007
    ..MCC testing was performed in the majority of molecular diagnostic laboratories, but guidelines for standardization are needed to ensure optimal and accurate prenatal patient care...
  11. pmc Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population
    Iris Schrijver
    Department of Pathology, L235, Stanford University Medical Center, 300 Pasteur Dr, Stanford, CA 94305, USA
    J Mol Diagn 9:228-36. 2007
    ..This cost-effective array is based on a diversely applied platform technology and is suitable for both carrier screening and disease detection in Ashkenazi and Sephardic Jewish populations...
  12. ncbi request reprint Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype?
    Iris Schrijver
    Department of Pathology and Pediatrics, L235, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA
    Int J Pediatr Otorhinolaryngol 70:2109-13. 2006
    ..We review the literature and present evidence in support of pathogenicity. Larger studies in compound heterozygous individuals and co-transfection studies will allow better genotype-phenotype correlations and prognostication...
  13. pmc Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis
    Iris Schrijver
    Department of Pathology L235, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA
    J Mol Diagn 10:368-75. 2008
    ..Thus, apparent exon deletions by MLPA may indicate the presence of both large deletions and point mutations, with important implications for pan-ethnic MLPA testing in cystic fibrosis and other genetic conditions...
  14. ncbi request reprint Genetic analysis of presbycusis by arrayed primer extension
    Juan Rodriguez-Paris
    Department of Pathology, L235, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305, USA
    Ann Clin Lab Sci 38:352-60. 2008
    ..Individuals who carry two mild mutations in the GJB2 gene possibly have an increased risk of developing early presbycusis...
  15. doi request reprint Connexin-26-associated deafness: phenotypic variability and progression of hearing loss
    Dylan K Chan
    Department of Otolaryngology Head and Neck Surgery, Lucille Packard Children s Hospital, Stanford University Hospital and Clinics, Stanford, California 94305, USA
    Genet Med 12:174-81. 2010
    ..To evaluate genotype-phenotype correlation over time for a cohort of children with connexin-26 (GJB2)-associated autosomal recessive hearing loss...
  16. ncbi request reprint Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up
    Phyllis Gardner
    Department of Medicine, Stanford University Medical Center, Stanford, California 94305, USA
    Pediatrics 118:985-94. 2006
    ....
  17. pmc Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum
    Iris Schrijver
    Department of Pathology, L235, Stanford University Medical Center, Stanford, CA 94305, USA
    J Mol Diagn 7:289-99. 2005
    ..These results underscore the disparity in mutation identification between Caucasians and Hispanics and show utility for comprehensive diagnostic CFTR mutation analysis in this population...
  18. pmc Design and evaluation of a real-time PCR assay for quantification of JAK2 V617F and wild-type JAK2 transcript levels in the clinical laboratory
    Jason D Merker
    Department of Pathology, Stanford University Medical Center, 300 Pasteur Dr, L235, Stanford, CA 94305 5324, USA
    J Mol Diagn 12:58-64. 2010
    ....
  19. doi request reprint Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population
    Owen T M Chan
    Dept of Pathology, Stanford University School of Medicine, 300 Pasteur Dr, Lane 235, Stanford, CA 94305 5324, USA
    Am J Clin Pathol 133:700-7. 2010
    ..The beta-GMDA offers superior sensitivity and ease of use with comprehensive detection of HBB mutations that result in beta-globin chain variants...
  20. ncbi request reprint Identification of an intronic single nucleotide polymorphism leading to allele dropout during validation of a CDH1 sequencing assay: implications for designing polymerase chain reaction-based assays
    Franklin M Mullins
    Department of Pathology, Stanford University, Stanford, California 94305, USA
    Genet Med 9:752-60. 2007
    ..Identification of individuals at high risk of developing diffuse gastric cancer affords the opportunity for endoscopic screening or elective prophylactic gastrectomy. We set out to develop a CDH1 sequencing assay for clinical use...
  21. doi request reprint The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis
    Juan Rodriguez-Paris
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Biochem Biophys Res Commun 389:354-9. 2009
    ..Our study provides unequivocal support for the hypothesis that del(GJB6-D13S1830) eliminates a putative cis-regulatory element located within the deleted region...
  22. doi request reprint Diagnostic yield in the workup of congenital sensorineural hearing loss is dependent on patient ethnicity
    Dylan K Chan
    Department of Otolaryngology Head and Neck Surgery, Lucille Packard Children s Hospital, Stanford University Hospital and Clinics, Stanford, California 94305, USA
    Otol Neurotol 32:81-7. 2011
    ..Diagnostic yield on GJB2 sequencing and computed tomography in the workup for idiopathic congenital sensorineural hearing loss is related to patient ethnicity...
  23. pmc Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations
    Iris Schrijver
    Department of Pathology, L235, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA
    J Mol Diagn 7:375-87. 2005
    ..The arrayed primer extension array, based on a platform technology for disease detection with multiple applications, is a robust, cost-effective, and easily modifiable assay suitable for CF carrier screening and disease detection...
  24. doi request reprint Verification of performance specifications of a molecular test: cystic fibrosis carrier testing using the Luminex liquid bead array
    Felicitas L Lacbawan
    Department of Pathology, State University of New York Downstate Medical Center, Brooklyn, 11203, USA
    Arch Pathol Lab Med 136:14-9. 2012
    ..Prior to offering a US Food and Drug Administration-approved test, it is necessary that performance characteristics of the test, as claimed by the company, are verified before the assay is implemented in a clinical laboratory...
  25. ncbi request reprint A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
    Girish V Putcha
    Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
    Genet Med 9:413-26. 2007
    ....
  26. ncbi request reprint Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes
    Iris Schrijver
    Department of Pathology, Molecular Pathology Laboratory, Stanford University Medical Center, Stanford, CA 94305, USA
    Genet Test 8:185-9. 2004
    ....
  27. doi request reprint Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T)
    Neng Chen
    Departments of Pathology, Stanford University School of Medicine, California, USA
    Genet Med 13:1025-31. 2011
    ..We developed a method that does not fully depend on the specific nucleotide changes. It enables efficient assay design and practical implementation of allelic discrimination...
  28. doi request reprint Evaluation of a gene expression microarray-based assay to determine tissue type of origin on a diverse set of 49 malignancies
    Andrew H Beck
    Department of Pathology, Stanford University School of Medicine, CA, USA
    Am J Surg Pathol 35:1030-7. 2011
    ..These results provide an insight into the strengths and limitations of this molecular assay for the surgical pathologist, and our findings suggest future directions for research in this area...
  29. pmc Detection of the JAK2 V617F mutation by LightCycler PCR and probe dissociation analysis
    Marla Lay
    Molecular Pathology Laboratory, L235, 300 Pasteur Dr, Stanford University School of Medicine, CA 94305, USA
    J Mol Diagn 8:330-4. 2006
    ..We found that the LightCycler method offered advantages of speed, reliability, and more straightforward interpretation over the restriction fragment-length polymorphism and sequencing approaches...
  30. doi request reprint Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation
    Karen E Matsukuma
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Hum Pathol 41:1200-3. 2010
    ..In summary, we have identified a novel CDH1 mutation in a large hereditary diffuse gastric cancer kindred and identified its pathogenic mechanism...
  31. pmc Combined use of PCR-based TCRG and TCRB clonality tests on paraffin-embedded skin tissue in the differential diagnosis of mycosis fungoides and inflammatory dermatoses
    Bing Zhang
    Department of Pathology, L235, Stanford University Medical Center, Stanford, CA 94305, USA
    J Mol Diagn 12:320-7. 2010
    ..Combined use of the two tests in patients with intermediate pretest probabilities as proposed in the algorithm could improve test utility...
  32. ncbi request reprint Diagnostic single nucleotide polymorphism analysis of factor V Leiden and prothrombin 20210G > A. A comparison of the Nanogen Eelectronic Microarray with restriction enzyme digestion and the Roche LightCycler
    Iris Schrijver
    Department of Pathology, Molecular Pathology Laboratory, Stanford University Medical Center, Stanford, CA 94305, USA
    Am J Clin Pathol 119:490-6. 2003
    ..The NanoChip assay is reliable and may be especially valuable to laboratories with a large volume of thrombophilia test requests...
  33. pmc Prothrombin gene variants in non-Caucasians with fetal loss and intrauterine growth retardation
    Iris Schrijver
    Department of Pathology, Stanford University Medical Center, Stanford, California 94305, USA
    J Mol Diagn 5:250-3. 2003
    ....
  34. pmc Interlaboratory performance of a microarray-based gene expression test to determine tissue of origin in poorly differentiated and undifferentiated cancers
    Catherine I Dumur
    Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, USA
    J Mol Diagn 10:67-77. 2008
    ....
  35. pmc Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting
    Neng Chen
    Department of Pathology, Stanford University School of Medicine, Stanford, California, USA
    J Mol Diagn 13:416-26. 2011
    ..In conclusion, HRM with targeted sequencing is a reliable, simple, and cost-effective method for SLC26A4 mutation screening and detection...
  36. pmc Rare sequence variation in the genome flanking a short tandem repeat locus can lead to a question of "nonmaternity"
    Anne Deucher
    Department of Pathology, L235, Stanford University Medical Center, 300 Pasteur Dr, Stanford, CA 94305, USA
    J Mol Diagn 12:384-9. 2010
    ..This explained the apparent null allele shared between the maternal and fetal samples. Therefore, although rare, allele dropout must be considered whenever unexplained homozygosity at an STR locus is observed...
  37. doi request reprint Increased incidence of profound biotinidase deficiency among Hispanic newborns in California
    Tina M Cowan
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Mol Genet Metab 106:485-7. 2012
    ..Of the 28 patients, 23 underwent mutation analysis of the BTD gene, with one common mutation, 528G>T, found in 43.3% of Hispanic alleles tested...
  38. pmc Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes
    Iris Schrijver
    Howard Hughes Medical Institute, Stanford University Medical Center, Stanford, CA 94305 5323, USA
    Am J Hum Genet 71:223-37. 2002
    ..We conclude that PTC mutations have a major impact on the pathogenesis of type 1 fibrillinopathies and convey a distinct biochemical, clinical, and prognostic profile...
  39. ncbi request reprint Homozygous factor V splice site mutation associated with severe factor V deficiency
    Iris Schrijver
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Blood 99:3063-5. 2002
    ..Several are present in the heterozygous form in combination with factor V Leiden (Arg506Gln). This is the first reported homozygous splice site mutation in a patient with factor V deficiency...
  40. doi request reprint A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas
    Amirkaveh Mojtahed
    Department of Pathology, Stanford University, Stanford, CA, USA
    Mod Pathol 24:1004-14. 2011
    ..Our findings confirm the utility of a two-antibody approach using PMS2 and MSH6 in colorectal carcinoma and indicate that this approach is effective in extraintestinal neoplasms associated with Lynch syndrome...
  41. doi request reprint The role of the cytoskeleton in the formation of gap junctions by Connexin 30
    Chunyan Qu
    Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA
    Exp Cell Res 315:1683-92. 2009
    ..The results suggest that the cytoskeleton, and especially actin filaments, are important components in the processes of assembly, trafficking and stabilization of Cx30 gap junctions...
  42. doi request reprint Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines
    Diana Darcy
    Master s Program in Human Genetics and Genetic Counseling, Department of Genetics, Stanford University School of Medicine, Palo Alto, California 94305, USA
    Genet Test Mol Biomarkers 15:517-23. 2011
    ..We also explored potential barriers to offering screening and whether academic affiliation or type of practice influenced outcome...
  43. pmc Profound functional and signaling changes in viable inflammatory neutrophils homing to cystic fibrosis airways
    Rabindra Tirouvanziam
    Departments of Pediatrics, Genetics, and Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 105:4335-9. 2008
    ..Thus, we identified a subset of neutrophils within CF airways with a viable but dysfunctional phenotype. This subset provides a possible therapeutic target and indicates a need to revisit current paradigms of CF airway disease...
  44. ncbi request reprint T-cell clonality analysis in biopsy specimens from two different skin sites shows high specificity in the diagnosis of patients with suggested mycosis fungoides
    Stacy E Thurber
    Department of Pathology, Stanford University, Stanford, California 94035, USA
    J Am Acad Dermatol 57:782-90. 2007
    ....
  45. pmc Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound
    Iris Schrijver
    Department of Pathology and Pediatrics, L235, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA
    J Mol Diagn 6:275-84. 2004
    ..This review aims to provide the framework pertinent to diagnosticians and a practical approach to mutation analysis in the hearing impaired...
  46. doi request reprint Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and younger
    Kristin C Jensen
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Am J Surg Pathol 32:1029-37. 2008
    ..The occurrence of MMR inactivation in a significant proportion of ovarian clear cell carcinomas (17% in this study) suggests that this tumor may warrant targeted testing in women <or=50 years of age...
  47. doi request reprint A 30-month-old child with acute renal failure due to primary renal cytotoxic T-cell lymphoma
    Srikanth Paladugu
    Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA
    Am J Surg Pathol 34:1066-70. 2010
    ..We review the literature on primary renal lymphoma with an emphasis on T-lineage lymphomas and those that occur in children...
  48. pmc Ultrasensitive detection of drug-resistant pandemic 2009 (H1N1) influenza A virus by rare-variant-sensitive high-resolution melting-curve analysis
    Neng Chen
    Department of Pathology, Stanford University School of Medicine, Stanford, California, USA
    J Clin Microbiol 49:2602-9. 2011
    ..Thus, patients naive to oseltamivir are most likely to be susceptible when this drug is used as a first-line treatment modality...
  49. ncbi request reprint Identification of mislabeled specimen by molecular methods: case report and review
    M Rajan Mariappan
    Department of Pathology, Stanford University Medical Center, Stanford, CA 94305, USA
    Int J Surg Pathol 13:253-8. 2005
    ..This amelogenin marker results in a product of low molecular weight, enabling unequivocal resolution of identity despite a poor DNA yield. The prevalence of errors in pathology due to specimen misidentifications is reviewed...
  50. doi request reprint Test verification and validation for molecular diagnostic assays
    Kevin C Halling
    Department of Laboratory Medicine, Mayo Foundation, Rochester, Minnesota, USA
    Arch Pathol Lab Med 136:11-3. 2012
    ..Many laboratories, especially those introducing new types of molecular assays, would welcome additional guidance, especially in the form of specific examples, on the process of preparing a new molecular assay for clinical use...
  51. pmc Labor and cost requirements of two commercial assays for qualitative molecular detection of hepatitis C virus
    Iris Schrijver
    Department of Pathology, Stanford University School of Medicine, California, USA
    J Clin Microbiol 40:3476-7. 2002
    ..The TMA assay compares well to PCR and may be especially useful for laboratories with large numbers of test requests...
  52. ncbi request reprint Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy
    Iris Schrijver
    Howard Hughes Medical Institute and Department of Genetics, Stanford University School of Medicine, California, USA
    J Neurosurg 96:483-9. 2002
    ..The authors examined a group of patients suffering from spontaneous spinal CSF leaks who also had minor skeletal features of Marfan syndrome for abnormalities of fibrillin-containing microfibrils...
  53. ncbi request reprint Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis
    Maggie L Naguib
    Department of Pediatrics, Division of Pulmonology, Cairo University Children s Hospital, Faculty of Medicine Cairo, Egypt
    J Cyst Fibros 6:111-6. 2007
    ..Knowledge about Cystic Fibrosis (CF) in Egypt is very limited. The objective of this study was to screen for CF in Egyptian children with suggestive clinical features and to identify causative genetic mutations...
  54. ncbi request reprint Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis
    Iris Schrijver
    Am J Med Genet A 133:103-5. 2005
  55. pmc GJB2 mutations and degree of hearing loss: a multicenter study
    Rikkert L Snoeckx
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Am J Hum Genet 77:945-57. 2005
    ..Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes...