M W Wessels

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. pmc Identification of RNA binding motif proteins essential for cardiovascular development
    Samantha Maragh
    Biochemical Science Division, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA
    BMC Dev Biol 11:62. 2011
  2. pmc Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
    Mark Nellist
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    BMC Med Genet 9:10. 2008
  3. ncbi request reprint Three new families with arterial tortuosity syndrome
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Am J Med Genet A 131:134-43. 2004
  4. ncbi request reprint A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
    Marja W Wessels
    Departments of Clinical Genetics, Erasmus Medical Centre, Westzeedijk 112, 3016 AH, Rotterdam, The Netherlands
    Hum Genet 122:595-603. 2008
  5. ncbi request reprint Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University and University Hospital, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands
    Am J Med Genet A 120:97-104. 2003
  6. ncbi request reprint Autosomal dominant inheritance of left ventricular outflow tract obstruction
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Am J Med Genet A 134:171-9. 2005
  7. doi request reprint Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations
    Marja W Wessels
    Department of Clinical Genetics, Erasmus Medical Center, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands
    Clin Genet 74:16-9. 2008
  8. doi request reprint Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands
    Am J Med Genet A 149:216-25. 2009
  9. doi request reprint Genetic factors in non-syndromic congenital heart malformations
    M W Wessels
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Clin Genet 78:103-23. 2010
  10. ncbi request reprint Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation
    M W Wessels
    Department of Obstetrics and Gynecology, University Hospital Dijkzigt, Rotterdam, The Netherlands
    Am J Med Genet A 116:147-51. 2003

Collaborators

Detail Information

Publications23

  1. pmc Identification of RNA binding motif proteins essential for cardiovascular development
    Samantha Maragh
    Biochemical Science Division, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA
    BMC Dev Biol 11:62. 2011
    ....
  2. pmc Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
    Mark Nellist
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    BMC Med Genet 9:10. 2008
    ..3. The TSC1 and TSC2 gene products, TSC1 and TSC2, interact to form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR)...
  3. ncbi request reprint Three new families with arterial tortuosity syndrome
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Am J Med Genet A 131:134-43. 2004
    ..A biochemical or molecular defect has not yet been identified. We describe here nine additional ATS patients from three consanguineous Moroccan families and review a total of 35 patients with this uncommon condition...
  4. ncbi request reprint A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
    Marja W Wessels
    Departments of Clinical Genetics, Erasmus Medical Centre, Westzeedijk 112, 3016 AH, Rotterdam, The Netherlands
    Hum Genet 122:595-603. 2008
    ..Taken together, the genomic region could be reduced to 9.4 cM (12 Mb) containing several functional candidate genes for this complex heterotaxy phenotype...
  5. ncbi request reprint Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University and University Hospital, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands
    Am J Med Genet A 120:97-104. 2003
    ..The difficulties in reaching a causal diagnosis are illustrated here by a 23-week-old fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia...
  6. ncbi request reprint Autosomal dominant inheritance of left ventricular outflow tract obstruction
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Am J Med Genet A 134:171-9. 2005
    ..This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect...
  7. doi request reprint Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations
    Marja W Wessels
    Department of Clinical Genetics, Erasmus Medical Center, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands
    Clin Genet 74:16-9. 2008
    ..2007) Am J Med Genet 143: 2662-2667 Alpha-cardiac actin mutations produce atrial septal defects Matsson et al. (2008) Hum Mol Genet 17: 256-265...
  8. doi request reprint Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands
    Am J Med Genet A 149:216-25. 2009
    ..These families might be instrumental in identifying genes involved in cardiac valve morphogenesis and malformation...
  9. doi request reprint Genetic factors in non-syndromic congenital heart malformations
    M W Wessels
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Clin Genet 78:103-23. 2010
    ..We review here the monogenic disease genes with high-penetrance mutations, susceptibility genes with reduced-penetrance mutations, and somatic mutations implicated in non-syndromic CHM...
  10. ncbi request reprint Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation
    M W Wessels
    Department of Obstetrics and Gynecology, University Hospital Dijkzigt, Rotterdam, The Netherlands
    Am J Med Genet A 116:147-51. 2003
    ..This study indictes that second- and third-trimester in utero diagnosis of Down syndrome has a poor outcome when associated with CHM and/or SGA. This is important in the genetic counseling of the parents...
  11. ncbi request reprint Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez
    M W Wessels
    Department of Obstetrics and Gynaecology, University Hospital Dijkzigt, Rotterdam, The Netherlands
    Am J Med Genet 113:97-100. 2002
    ..We describe another case of AFD type Rodriguez, identified by prenatal ultrasonography at 25 weeks of gestation...
  12. ncbi request reprint Unexpected life-threatening complications in Kabuki syndrome
    M M van Haelst
    Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
    Am J Med Genet 94:170-3. 2000
    ..We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia...
  13. doi request reprint Cornelia de lange syndrome: a recognizable fetal phenotype
    F A Wilmink
    Department of Obstetrics and Gynecology, Amphia Hospital, Breda, Erasmus Medical Center, Rotterdam, The Netherlands
    Fetal Diagn Ther 26:50-3. 2009
    ..This case illustrates that the diagnosis Cornelia the Lange syndrome can be suspected prenatally in the second trimester, and can be diagnosed in fetuses after induction or newborns at birth as the typical phenotype is present early...
  14. ncbi request reprint Prenatal diagnosis of boomerang dysplasia
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands
    Am J Med Genet A 122:148-54. 2003
    ..We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound...
  15. ncbi request reprint Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University Medical Centre, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands
    Prenat Diagn 23:239-42. 2003
    ..These cases demonstrate that mild fetal cerebral ventriculomegaly can be a prenatal sonographic marker of PCD, certainly in fetuses with situs inversus or a history of a previous sib with PCD...
  16. doi request reprint Candidate gene analysis in three families with acilia syndrome
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands
    Am J Med Genet A 146:1765-7. 2008
  17. ncbi request reprint Kabuki syndrome: a review study of three hundred patients
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Clin Dysmorphol 11:95-102. 2002
    ..Postnatal growth retardation, skeletal and visceral anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients...
  18. ncbi request reprint Early fetal anomaly scanning in a population at increased risk of abnormalities
    N S Den Hollander
    Department of Obstetrics, Academic Hospital Rotterdam Dijkzigt, Rotterdam, The Netherlands
    Ultrasound Obstet Gynecol 19:570-4. 2002
    ..To determine the effectiveness of early fetal anomaly scanning in a population at risk of fetal anomalies...
  19. doi request reprint The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy
    Yvonne M Hoedemaekers
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Circ Cardiovasc Genet 3:232-9. 2010
    ..To contribute to the genetic classification for LVNC, a systematic cardiological family study was performed in a cohort of 58 consecutively diagnosed and molecularly screened patients with isolated LVNC (49 adults and 9 children)...
  20. doi request reprint Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
    Marlies J Valstar
    Department of Clinical Genetics, Erasmus University Medical Center, Dr Molewaterplein 50, Rotterdam, The Netherlands
    Hum Mutat 31:E1348-60. 2010
    ..They include the first missense mutations and a relatively high proportion of large rearrangements, which warrants the inclusion of quantitative techniques in routine mutation screening of the GNS gene...
  21. pmc Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
    Annemieke J M H Verkerk
    Department of Bioinformatics, Erasmus Medical Center, 3015 GE Rotterdam, The Netherlands
    Am J Hum Genet 85:40-52. 2009
    ....
  22. ncbi request reprint Images in clinical medicine. Chondrodysplasia punctata
    Marja W Wessels
    University Hospital Rotterdam, 3015 GD Rotterdam, The Netherlands
    N Engl J Med 347:110. 2002
  23. ncbi request reprint Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
    Paul J Coucke
    Center for Medical Genetics, Ghent University, B 9000 Ghent, Belgium
    Nat Genet 38:452-7. 2006
    ..Our data could provide new insight on the mechanisms causing microangiopathic changes associated with diabetes and suggest that therapeutic compounds intervening with TGFbeta signaling represent a new treatment strategy...