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1
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67349083547
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Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals
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Bijlsma E.K., Gijsbers A.C.J., Schuurs-Hoeijmakers J.H.M., van Haeringen A., Fransen van de Putte D.E., Anderlid B.-M., Lundin J., Lapunzina P., Pérez Jurado L.A., Delle Chiaie B., Loeys B., Menten B., Oostra A., Verhelst H., Amori D.J., Bruno D.L., van Essen A.J., Hordijk R., Sikkema-Raddatz B., Verbruggen K.T., Jongmans M.C.J., Pfundt R., Breuning M.H., and Ruivenkamp C.A.L. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur. J. Med. Genet. 52 (2009)
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Eur. J. Med. Genet.
, vol.52
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Bijlsma, E.K.1
Gijsbers, A.C.J.2
Schuurs-Hoeijmakers, J.H.M.3
van Haeringen, A.4
Fransen van de Putte, D.E.5
Anderlid, B.-M.6
Lundin, J.7
Lapunzina, P.8
Pérez Jurado, L.A.9
Delle Chiaie, B.10
Loeys, B.11
Menten, B.12
Oostra, A.13
Verhelst, H.14
Amori, D.J.15
Bruno, D.L.16
van Essen, A.J.17
Hordijk, R.18
Sikkema-Raddatz, B.19
Verbruggen, K.T.20
Jongmans, M.C.J.21
Pfundt, R.22
Breuning, M.H.23
Ruivenkamp, C.A.L.24
more..
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2
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67349129054
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The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is a short stature gene
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Buysse K., Reardon W., Mehta L., Costa T., Fagerstrom C., Kingsbury D.J., Anadiotis G., McGillivray B.C., Hellemans J., de Leeuw N., de Vries B.B.A., Speleman F., Menten B., and Mortier G. The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is a short stature gene. Eur. J. Med. Genet. 52 (2009)
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(2009)
Eur. J. Med. Genet.
, vol.52
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Buysse, K.1
Reardon, W.2
Mehta, L.3
Costa, T.4
Fagerstrom, C.5
Kingsbury, D.J.6
Anadiotis, G.7
McGillivray, B.C.8
Hellemans, J.9
de Leeuw, N.10
de Vries, B.B.A.11
Speleman, F.12
Menten, B.13
Mortier, G.14
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3
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67349109792
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Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome
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De Ravel T.J.L., Ameye L., Ballon K., Borghgraef M., Vermeesch J.R., and Devriendt K. Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. Eur. J. Med. Genet. 52 (2009)
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Eur. J. Med. Genet.
, vol.52
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De Ravel, T.J.L.1
Ameye, L.2
Ballon, K.3
Borghgraef, M.4
Vermeesch, J.R.5
Devriendt, K.6
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4
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67349238710
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Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome
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De Ravel T.J.L., Balikova I., Thiry P., Vermeesch J.R., and Frijns J.P. Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome. Eur. J. Med. Genet. 52 (2009)
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Eur. J. Med. Genet.
, vol.52
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De Ravel, T.J.L.1
Balikova, I.2
Thiry, P.3
Vermeesch, J.R.4
Frijns, J.P.5
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5
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25144445260
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Announcing "chromosomal imbalance letter"
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Devriendt K. Announcing "chromosomal imbalance letter". Eur. J. Med. Genet. 48 (2005) 353-354
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(2005)
Eur. J. Med. Genet.
, vol.48
, pp. 353-354
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Devriendt, K.1
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6
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33745587022
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European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities
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Feenstra I., Fang J., Koolen D.A., Siezen A., Evans C., Winter R.M., Lees M.M., Riegel M., de Vries B.B.A., van Ravenswaaij C.M.A., and Schinzel A. European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur. J. Med. Genet. 49 (2006) 279-291
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Eur. J. Med. Genet.
, vol.49
, pp. 279-291
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Feenstra, I.1
Fang, J.2
Koolen, D.A.3
Siezen, A.4
Evans, C.5
Winter, R.M.6
Lees, M.M.7
Riegel, M.8
de Vries, B.B.A.9
van Ravenswaaij, C.M.A.10
Schinzel, A.11
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7
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67349118496
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A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature
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Hanemaaijer N., Dijkhuizen T., Haadsma M., Boeve M., Boon M., Hordijk R., Kok K., Sikkema-Raddatz B., and van Ravenswaaij-Arts C.M.A. A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature. Eur. J. Med. Genet. 52 (2009)
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(2009)
Eur. J. Med. Genet.
, vol.52
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Hanemaaijer, N.1
Dijkhuizen, T.2
Haadsma, M.3
Boeve, M.4
Boon, M.5
Hordijk, R.6
Kok, K.7
Sikkema-Raddatz, B.8
van Ravenswaaij-Arts, C.M.A.9
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8
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67349171133
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14q12 microdeletion syndrome and congenital variant of Rett syndrome
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Mencarelli M.A., Kleefstra T., Katzaki E., Papa F.T., Cohen M., Pfundt R., Ariani F., Meloni I., Mari F., and Renieri A. 14q12 microdeletion syndrome and congenital variant of Rett syndrome. Eur. J. Med. Genet. 52 (2009)
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(2009)
Eur. J. Med. Genet.
, vol.52
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Mencarelli, M.A.1
Kleefstra, T.2
Katzaki, E.3
Papa, F.T.4
Cohen, M.5
Pfundt, R.6
Ariani, F.7
Meloni, I.8
Mari, F.9
Renieri, A.10
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9
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67349164801
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A 785 kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis
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Pariani M.J., Spencer A., Graham Jr. J.M., and Rimoin D.L. A 785 kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis. Eur. J. Med. Genet. 52 (2009)
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Eur. J. Med. Genet.
, vol.52
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Pariani, M.J.1
Spencer, A.2
Graham Jr., J.M.3
Rimoin, D.L.4
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10
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67349253075
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A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
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Pollazzon M., Grosso S., Papa F.T., Katzaki E., Marozza A., Mencarelli M.A., Uliana V., Balestri P., Mari F., and Renier A. A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb. Eur. J. Med. Genet. 52 (2009)
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, vol.52
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Pollazzon, M.1
Grosso, S.2
Papa, F.T.3
Katzaki, E.4
Marozza, A.5
Mencarelli, M.A.6
Uliana, V.7
Balestri, P.8
Mari, F.9
Renier, A.10
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11
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67349189512
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Microduplication 22q11.2: a new chromosomal syndrome
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Portnoï M.F. Microduplication 22q11.2: a new chromosomal syndrome. Eur. J. Med. Genet. 52 (2009)
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Portnoï, M.F.1
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12
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67349150706
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The 8q22.1 microdeletion syndrome or Nablus Mask-Like Facial syndrome: report on two patients and review of the literature
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Raas-Rothschild A., Dijkhuizen T., Sikkema-Raddatz B., Werner M., Dagan J., Abeliovich D., and Lerer I. The 8q22.1 microdeletion syndrome or Nablus Mask-Like Facial syndrome: report on two patients and review of the literature. Eur. J. Med. Genet. 52 (2009)
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Raas-Rothschild, A.1
Dijkhuizen, T.2
Sikkema-Raddatz, B.3
Werner, M.4
Dagan, J.5
Abeliovich, D.6
Lerer, I.7
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13
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67349089302
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1.6 Mb deletion in chromosome band 3q29 associated with eye abnormalities
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Tyshchenko N., Hackmann K., Gerlach E.M., Neuhann T., Schrock E., and Tinschert S. 1.6 Mb deletion in chromosome band 3q29 associated with eye abnormalities. Eur. J. Med. Genet. 52 (2009)
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Eur. J. Med. Genet.
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Tyshchenko, N.1
Hackmann, K.2
Gerlach, E.M.3
Neuhann, T.4
Schrock, E.5
Tinschert, S.6
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14
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67349101629
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
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Van der Aa N., Rooms L., Vandeweyer G., van den Ende J., Reyniers E., Fichera M., Romano C., Delle Chiaie B., Mortier G., Menten B., Destrée A., Maystadt I., Männik K., Kurg A., Reimand T., McMullan D., Oley C., Brueton L., Bongers E.M.H.F., van Bon B.W.M., Pfund R., Jacquemont S., Ferrarini A., Martinet D., Schrander-Stumpel C., Stegmann A.P.A., Frints S.G.M., de Vries B.B.A., Ceulemans B., and Kooy R.F. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur. J. Med. Genet. 52 (2009)
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Eur. J. Med. Genet.
, vol.52
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Van der Aa, N.1
Rooms, L.2
Vandeweyer, G.3
van den Ende, J.4
Reyniers, E.5
Fichera, M.6
Romano, C.7
Delle Chiaie, B.8
Mortier, G.9
Menten, B.10
Destrée, A.11
Maystadt, I.12
Männik, K.13
Kurg, A.14
Reimand, T.15
McMullan, D.16
Oley, C.17
Brueton, L.18
Bongers, E.M.H.F.19
van Bon, B.W.M.20
Pfund, R.21
Jacquemont, S.22
Ferrarini, A.23
Martinet, D.24
Schrander-Stumpel, C.25
Stegmann, A.P.A.26
Frints, S.G.M.27
de Vries, B.B.A.28
Ceulemans, B.29
Kooy, R.F.30
more..
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15
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67349149182
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Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome
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Van Esch H., Backx L., Pijkels E., and Fryns J.P. Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. Eur. J. Med. Genet. 52 (2009)
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(2009)
Eur. J. Med. Genet.
, vol.52
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Van Esch, H.1
Backx, L.2
Pijkels, E.3
Fryns, J.P.4
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16
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67349158335
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A unique 970 kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female
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van Silfhout A., Boot A.M., Dijkhuizen T., Hoek A., Nijman R., Sikkema-Raddatz B., and van Ravenswaaij-Arts C.M.A. A unique 970 kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female. Eur. J. Med. Genet. 52 (2009)
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(2009)
Eur. J. Med. Genet.
, vol.52
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van Silfhout, A.1
Boot, A.M.2
Dijkhuizen, T.3
Hoek, A.4
Nijman, R.5
Sikkema-Raddatz, B.6
van Ravenswaaij-Arts, C.M.A.7
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17
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25144489055
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From chromosomes to molecular kayotyping
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Vermeesch J.R. From chromosomes to molecular kayotyping. Eur. J. Med. Genet. 48 (2005) 211-213
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(2005)
Eur. J. Med. Genet.
, vol.48
, pp. 211-213
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Vermeesch, J.R.1
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18
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67349088574
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Clinical and molecular characterization of two patients with a 6,75 Mb overlapping 8p12-p21 deletion suggests two candidate loci for congenital heart defects in proximal 8p deletions
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Willemsen M., de Leeuw N., Pfundt R., de Vries B., and Kleefstra T. Clinical and molecular characterization of two patients with a 6,75 Mb overlapping 8p12-p21 deletion suggests two candidate loci for congenital heart defects in proximal 8p deletions. Eur. J. Med. Genet. 52 (2009)
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, vol.52
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Willemsen, M.1
de Leeuw, N.2
Pfundt, R.3
de Vries, B.4
Kleefstra, T.5
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