Joke B G M Verheij

Summary

Affiliation: University of Groningen
Country: The Netherlands

Publications

  1. ncbi request reprint ABCD syndrome is caused by a homozygous mutation in the EDNRB gene
    Joke B G M Verheij
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Am J Med Genet 108:223-5. 2002
  2. pmc Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism
    Anneke T van Silfhout
    Department of Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands
    Eur J Hum Genet 17:1432-8. 2009
  3. pmc Mutations in SCG10 are not involved in Hirschsprung disease
    Maria M M Alves
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    PLoS ONE 5:e15144. 2010
  4. doi request reprint Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations
    Christine S Van Der Werf
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Genet Med 15:310-3. 2013
  5. doi request reprint CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome
    Christine S Van Der Werf
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Gastroenterology 142:453-462.e3. 2012
  6. doi request reprint Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
    Annemarie H van der Hout
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Eur J Hum Genet 16:673-9. 2008
  7. ncbi request reprint FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions
    Trijnie Dijkhuizen
    Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Am J Med Genet A 140:2482-7. 2006
  8. pmc Identifying candidate Hirschsprung disease-associated RET variants
    Grzegorz M Burzynski
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Am J Hum Genet 76:850-8. 2005
  9. ncbi request reprint Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 146:43-50. 2008
  10. ncbi request reprint Mutations in two regions of FLNB result in atelosteogenesis I and III
    Claire Farrington-Rock
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Hum Mutat 27:705-10. 2006

Collaborators

  • Robert M W Hofstra
  • Klaas Kok
  • Trijnie Dijkhuizen
  • Iain T Shepherd
  • Heather C Etchevers
  • Joana Paredes
  • Yvonne J Vos
  • Gretel G Oudesluijs
  • Han G Brunner
  • Stephen P Robertson
  • Daniel H Cohn
  • Christine S Van Der Werf
  • Maria M M Alves
  • Alice S Brooks
  • Anneke T van Silfhout
  • Marjolijn C J Jongmans
  • Annemarie H van der Hout
  • Jan Osinga
  • Patrick Rump
  • Claire Farrington-Rock
  • Grzegorz M Burzynski
  • Frederik G Dikkers
  • M Kathryn Liszewski
  • Matthew Carroll
  • John P Atkinson
  • Edward O'Loughlin
  • Yunia Sribudiani
  • Chien Huan Chen
  • Sirkka L Zeder
  • Isabella Ceccherini
  • Stanislas Lyonnet
  • Michel Vekemans
  • Ana S Ribeiro
  • Dick Tibboel
  • Gerard J Te Meerman
  • Raquel Seruca
  • Sven C D Van IJzendoorn
  • Edward J Hoffenberg
  • Peter M Kroisel
  • Candice Babarit
  • Nai Hua Hsiao
  • Tara D Wabbersen
  • Richard A Schreiber
  • Bart J L Eggen
  • Marco Metzger
  • Peter C van den Akker
  • Conny M A van Ravenswaaij-Arts
  • Maran J W Olderode-Berends
  • Birgit Sikkema-Raddatz
  • Bart G J Mol
  • Ronald J Admiraal
  • Ingrid Van de Laar
  • Andrea Venema
  • Lies H Hoefsloot
  • Anthonie J van Essen
  • Conny M A van Ravenswaaij
  • Ian Walpole
  • Kim P van der Donk
  • Yvonne Hendriks
  • Alex Magee
  • Joelle Roume
  • Louise S Bicknell
  • Andrea Superti-Furga
  • Elizabeth Sweeney
  • Martine Le Merrer
  • Clarisse Baumann
  • Deborah Krakow
  • David L Rimoin
  • Ralph S Lachman
  • Marc H Firestein
  • Valerie Cormier-Daire
  • Carlos A Bacino
  • Saskia Maas
  • Bas Twigt
  • Ilja M Nolte
  • Agnes Bronda
  • Monique van Mechelen
  • Ivan Plaza Menacho
  • Charles H C M Buys
  • Krista K Bos

Detail Information

Publications11

  1. ncbi request reprint ABCD syndrome is caused by a homozygous mutation in the EDNRB gene
    Joke B G M Verheij
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Am J Med Genet 108:223-5. 2002
    ..A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah-Waardenburg syndrome...
  2. pmc Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism
    Anneke T van Silfhout
    Department of Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands
    Eur J Hum Genet 17:1432-8. 2009
    ..We review previously reported studies that support this hypothetical mechanism...
  3. pmc Mutations in SCG10 are not involved in Hirschsprung disease
    Maria M M Alves
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    PLoS ONE 5:e15144. 2010
    ..In conclusion, this study shows that SCG10 is not directly implicated in HSCR development. However, an indirect involvement of SCG10 cannot be ruled out as this can be due to a secondary effect caused by its direct interactors...
  4. doi request reprint Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations
    Christine S Van Der Werf
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Genet Med 15:310-3. 2013
    ..No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these patients...
  5. doi request reprint CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome
    Christine S Van Der Werf
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Gastroenterology 142:453-462.e3. 2012
    ..They also are born with intestinal malrotation. Because CSBS occurs in many consanguineous families, it is considered to be an autosomal-recessive disorder. We aimed to identify and characterize the genetic factor causing CSBS...
  6. doi request reprint Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
    Annemarie H van der Hout
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Eur J Hum Genet 16:673-9. 2008
    ..Patients with homozygous or compound heterozygous mutations in the EDAR gene have a more severe phenotype than those with a heterozygous missense, nonsense or frame-shift mutation...
  7. ncbi request reprint FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions
    Trijnie Dijkhuizen
    Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Am J Med Genet A 140:2482-7. 2006
    ..We suggest that 3p- syndrome associated features are primarily caused by loss of CNTN4 and CRBN, with loss of CHL1 probably having an additional detrimental effect on the cognitive functioning of the present patient...
  8. pmc Identifying candidate Hirschsprung disease-associated RET variants
    Grzegorz M Burzynski
    Department of Medical Genetics, University of Groningen, Groningen, The Netherlands
    Am J Hum Genet 76:850-8. 2005
    ..Interspecies comparison showed that only one of the six variations was located in a region also conserved in a nonmammalian species, making it the most likely candidate HSCR-associated variant...
  9. ncbi request reprint Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability
    Marjolijn C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 146:43-50. 2008
    ..These two families showed parent-to-child transmission. Phenotypically milder forms of CHARGE syndrome have a higher risk of transmission to multiple family members...
  10. ncbi request reprint Mutations in two regions of FLNB result in atelosteogenesis I and III
    Claire Farrington-Rock
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Hum Mutat 27:705-10. 2006
    ..These results show that clustering of mutations in two regions of FLNB produce AOI/AOIII, and highlight the important role of this cytoskeletal protein in normal skeletogenesis...
  11. ncbi request reprint Hereditary congenital unilateral deafness: a new disorder?
    Frederik G Dikkers
    Department of Otorhinolaryngology, University Medical Center Groningen, PO Box 30 001, 9700 RB Groningen, The Netherlands
    Ann Otol Rhinol Laryngol 114:332-7. 2005
    ..The inheritance pattern of this new syndrome is not clear. We hypothesize that the disorder might be new. A family like this has never before been presented in the medical literature...