KNAW

Back to search results
Person

Jongmans, M.C.J.

Pagina-navigatie:
  • Main
  • Publications (11)
filter results
Type
Date
Accessibility
Institution

1-10 out of 11 results by:date

Save search results

  • CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. (2011)

    Authors:Bergman, J.E.; Janssen, N.; Hoefsloot, L.H.; Jongmans, M.C.; Hofstra, R.M.; Ravenswaaij-Arts, C.M.A. van
    In:Journal of Medical Genetics, 48, 334 - 342. ISSN 0022-2593.

  • Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation (2011)

    Authors:Jongmans, M.C.J.; Burgt, I. van der; Hoogerbrugge, P.M.; Noordam, K.; Yntema, H.G.; Nillesen, W.M.; Kuiper, R.P.; Ligtenberg, M.J.L.; Geurts van Kessel, A.H.M.; Krieken, J.H. van; Kiemeney, L.A.L.M.; Hoogerbrugge, N.
    In:European Journal of Human Genetics, 19, 870 - 874. ISSN 1018-4813.

    Abstract:

    Noonan syndrome (NS) is characterized by short stature, facial dysmorphisms and congenital heart defects. PTPN11 mutations are the most common cause of NS. Patients with NS have a predisposition for leukemia and certain solid tumors. Data on the incidence of malignancies in NS are lacking. Our objec

  • Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome? (2010)

    Authors:Jongmans, M.C.J.; Pfundt, R.P.; Hehir-Kwa, J.Y.; Brunner, H.G.; Kerstjens-Frederikse, W.S.
    In:Clinical Dysmorphology, 19, 30 - 32. ISSN 0962-8827.

  • Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. (2010)

    Authors:Jongmans, M.C.J.; Hoogerbrugge, P.M.; Hilkens, L.; Flucke, U.E.; Burgt, C.J.A.M. van der; Noordam, C.; Ruiterkamp-Versteeg, M.; Yntema, H.G.; Nillesen, W.M.; Ligtenberg, M.J.L.; Geurts van Kessel, A.H.M.; Kuiper, R.P.; Hoogerbrugge, N.
    In:Genes Chromosomes & Cancer, 49, 635 - 641. ISSN 1045-2257.

    Abstract:

    Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, facial dysmorphisms, and congenital heart defects, and is caused by mutations in either PTPN11, KRAS, NRAS, SHOC2, RAF1, or SOS1. Furthermore, NS is known for its predisposition to develop cancer, particularly he

  • Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. (2010)

    Authors:Jongmans, M.C.J.; Kuiper, R.P.; Carmichael, C.L.; Wilkins, E.J.; Dors, N.; Carmagnac, A.; Schouten-van Meeteren, A.Y.; Li, X.; Stankovic, M.; Kamping, E.J.; Bengtsson, H.; Schoenmakers, E.F.P.M.; Geurts van Kessel, A.H.M.; Hoogerbrugge, P.M.; Hahn, C.N.; Brons, P.P.T.; Scott, H.S.; Hoogerbrugge-van der Linden, N.
    In:Leukemia, 24, 242 - 246. ISSN 0887-6924.

  • A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. (2010)

    Authors:Morava, E.; Wevers, R.A.; Cantagrel, V.; Hoefsloot, L.H.; Al-Gazali, L.; Schoots, J.; Rooij, A. van; Huijben, K.; Ravenswaaij-Arts, C.M.A. van; Jongmans, M.C.J.; Sykut-Cegielska, J.; Hoffmann, G.F.; Bluemel, P.; Adamowicz, M.; Reeuwijk, J. van; Ng, B.G.; Bergman, J.E.; Bokhoven, J.H.L.M. van; Korner, C.; Babovic-Vuksanovic, D.; Willemsen, M.A.A.P.; Gleeson, J.G.; Lehle, L.; Brouwer, A.P.M. de; Lefeber, D.J.
    In:Brain, 133, 3210 - 3220. ISSN 0006-8950.

    Abstract:

    Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. In a group of patients with congenital disorders of glycosylation type I with unknown aetiology, we have previously described a distinct phenotype

  • Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. (2009)

    Authors:Bijlsma, E.K.; Gijsbers, A.C.; Schuurs-Hoeijmakers, J.H.M.; Haeringen, A. van; Fransen van de Putte, D.E.; Anderlid, B.M.; Lundin, J.; Lapunzina, P.; Perez Jurado, L.A.; Chiaie, B. Delle; Loeys, B.; Menten, B.; Oostra, A.; Verhelst, H.; Amor, D.J.; Bruno, D.L.; Essen, A.J. van; Hordijk, R.; Sikkema-Raddatz, B.; Verbruggen, K.T.; Jongmans, M.C.J.; Pfundt, R.P.; Reeser, H.M.; Breuning, M.H.; Ruivenkamp, C.
    In:European Journal of Medical Genetics, 52, 77 - 87. ISSN 1769-7212.

    Abstract:

    Array CGH (comparative genomic hybridization) screening of large patient cohorts with mental retardation and/or multiple congenital anomalies (MR/MCA) has led to the identification of a number of new microdeletion and microduplication syndromes. Recently, a recurrent copy number variant (CNV) at chr

  • CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. (2009)

    Authors:Jongmans, M.C.J.; Ravenswaaij-Arts, C.M.A. van; Pitteloud, N.; Ogata, T.; Sato, N.; Claahsen-van der Grinten, H.L.; Donk, K. van der; Seminara, S.; Bergman, J.E.; Brunner, H.G.; Crowley, W.F.; Hoefsloot, L.H.
    In:Clinical Genetics, 75, 65 - 71. ISSN 0009-9163.

    Abstract:

    Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with nor

  • Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. (2008)

    Authors:Jongmans, M.C.J.; Hoefsloot, L.H.; Donk, K.P. van der; Admiraal, R.J.; Magee, A.; Laar, I. van de; Hendriks, Y.; Verheij, J.B.; Walpole, I.; Brunner, H.G.; Ravenswaaij, C.M. van
    In:American Journal of Medical Genetics Part A, 146A, 43 - 50. ISSN 1552-4825.

    Abstract:

    CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the CHD7 gene. Few familial cases of this syndrome have been reported and these were characterized by a wide clinical variability. We here report on five CHD7 mutation positive families and comment on their clinical fe

  • Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. (2008)

    Authors:Bergman, J.E.; Wijs, I de; Jongmans, M.C.J.; Admiraal, R.J.; Hoefsloot, L.H.; Ravenswaaij-Arts, C.M.A. van
    In:European Journal of Medical Genetics, 51, 417 - 425. ISSN 1769-7212.

    Abstract:

    CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in the CHD7 gene. Mutations in this gene are found in 60-70% of patients suspected of having CHARGE syndrome. However, if only typical CHARGE patients are taken into account, mutations in the CHD7 gene are found in over 90

Pages:

previous
 < 1 2 > 

Go to page top
Go back to contents
Go back to site navigation