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1

Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients

John J.M. Engelen, Wim H. Loneus, Gerrie Vaes-Peeters, Constance T.R.M. Schrander-Stumpel

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 38 KB

english, 2005

2

Aging in people with specific genetic syndromes: Rett syndrome

Nicky S.J. Halbach, Eric E.J. Smeets, Connie T.R.M. Schrander-Stumpel, Henny H.J. van Schrojenstein Lantman de Valk, Marian A. Maaskant, Leopold M.G. Curfs

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 83 KB

english, 2008

3

Marden-Walker syndrome: case report, literature review and nosologic discussion

Constance Schrander-Stumpel, Christine de Die-Smulders, Marc de Krom, Suzanne Schyns-Fleuren, Ben Hamel, Deni Jaeken, Jean-Pierre Fryns

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 1.28 MB

english, 1993

4

Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome

M.A.M. van Steensel, M. van Geel, C. Schrander-Stumpel, P.M. Steijlen, J.C.J.M. Veraart

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 161 KB

english, 2007

5

Genotype–phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

Nicky S.J. Halbach, Eric E.J. Smeets, Noortje van den Braak, Kees E.P. van Roozendaal, Rien M.J. Blok, Constance T.R.M. Schrander-Stumpel, Jean-Pierre Frijns, Marian A. Maaskant, Leopold M.G. Curfs

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 148 KB

english, 2012

6

Cow's milk protein intolerance in infants under 1 year of age: A prospective epidemiological study

J. J. P. Schrander, J. P. H. van den Bogart, P. P. Forget, C. T. R. M. Schrander-Stumpel, R. H. Kuijten, A. D. M. Kester

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 513 KB

english, 1993

7

Somatic mosaicism in a mother of two children with Pitt–Hopkins syndrome

CVM Steinbusch, KEP van Roozendaal, D Tserpelis, EEJ Smeets, TJ Kranenburg-de Koning, KH de Waal, C Zweier, A Rauch, RCM Hennekam, MJ Blok, CTRM Schrander-Stumpel

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 610 KB

english, 2012

8

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

Maas, N. M C, Van de Putte, T., Melotte, C., Francis, A., Schrander-Stumpel, C. T R M, Sanlaville, D., Genevieve, D., Lyonnet, S., Dimitrov, B., Devriendt, K., Fryns, J.-P., Vermeesch, J. R

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 2.14 MB

english, 2007

9

Classical Scheuermann Disease in Male Monozygotic Twins

Graat, Harm C. A., van Rhijn, Lodewijk W., Schrander-Stumpel, Connie T. R. M., van Ooij, André

Journal:

Year:

2002

Language:

english

File:

PDF, 565 KB

english, 2002

10

Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: A new autosomal recessive syndrome?

Moog, U., Bleeker-Wagemakers, E.M., Crobach, P., Vles, J.S.H., Schrander-Stumpel, C.T.R.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 186 KB

english, 1998

11

Erratum

Schrander-Stumpel, Connie T.R.M.

Journal:

American Journal of Medical Genetics

Year:

1998

File:

PDF, 125 KB

1998

12

Erratum

Schrander-Stumpel, Connie T.R.M.

Journal:

American Journal of Medical Genetics

Year:

1998

File:

PDF, 35 KB

1998

13

What's in a name?

Schrander-Stumpel, Connie T.R.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 28 KB

english, 1998

14

Preconception care: Challenge of the new millennium?

Schrander-Stumpel, Connie

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 69 KB

english, 1999

15

Acampomelic campomelic syndrome

Ute Moog, N.J.G. Jansen, G. Scherer, C.T.R.M. Schrander-Stumpel

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 410 KB

english, 2001

16

Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: Confirmation of the autosomal recessive “SAMS” syndrome

Henriette ter Heide, Sjoerd K. Bulstra, Ad Reekers, Jaap J.P. Schrander, Constance T.R.M. Schrander-Stumpel

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 240 KB

english, 2002

17

Caudal deficiency sequence in 7q terminal deletion

Constance Schrander-Stumpel, Jaap Schrander, Jean-Pierre Fryns, Guus Hamers, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 253 KB

english, 1988

18

Limb reduction defects and renal dysplasia: Confirmation of a new, apparently lethal, autosomal recessive MCA syndrome

Constance Schrander-Stumpel, Christine de Die-Smulders, Jean Pierre Fryns, Joost da Costa, Peter Bouckaert

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 334 KB

english, 1990

19

Association of distal arthrogryposis, mental retardation, whistling face, and pierre robin sequence: Evidence for nosologic heterogeneity

Constance Schrander-Stumpel, Jean Pierre Fryns, Frits A. Beemer, Frans A. Rive

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 497 KB

english, 1991

20

Hallermann–Streiff syndrome: Clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

Ann Spaepen, Constance Schrander-Stumpel, Jean-Pierre Fryns, Christine De Die-Smulders, Martine Borghgraef, Herman Van Den Berghe

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 514 KB

english, 1991

21

MASA syndrome: Delineation of the clinical spectrum at prepubertal age

J. P. Fryns, C. Schrander-Stumpel, C. De Die-Smulders, M. Borghgraef, H. Van Den Berghe

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 487 KB

english, 1992

22

A severe case of mandibuloacral dysplasia in a girl

Constance Schrander-Stumpel, Ann Spaepen, Dr. Jean-Pierre Fryns, Jan Dumon

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 529 KB

english, 1992

23

Familial occurrence of renal and Müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay: A 4p deletion?

Christine de Die-Smulders, Constance Schrander-Stumpel, Jean-Pierre Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 88 KB

english, 1993

24

Mosaic tetrasomy 8p in two patients: Clinical data and review of the literature

Constance T. R. M. Schrander-Stumpel, Lutgarde C. P. Govaerts, John J. M. Engelen, Marianne van der Blij-Philipsen, Martine Borghgraef, Wil J. G. Loots, Jan J. M. Peters, Wilhelmina P. M. Rijnvos, Dom

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 373 KB

english, 1994

25

Exclusively maternal transmission of autosomal dominant Brachmann-de Lange syndrome

Christine de Die-Smulders, Connie Schrander-Stumpel, Jean-Pierre Fryns, Pierre Theunissen

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 57 KB

english, 1994

26

Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4

Jean-Pierre Fryns, Herman Van Den Berghe, Connie Schrander-Stumpel

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 159 KB

english, 1994

27

Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

Constance Schrander-Stumpel, Chris Höweler, Marilyn Jones, Annemarie Sommer, Cathy Stevens, Sigrid Tinschert, Jeanette Israel, Jean Pierre Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1.10 MB

english, 1995

28

Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature

Christine E. M. de Die-Smulders, John J. M. Engelen, Constance T. R. M. Schrander-Stumpel, Lutgarde C. P. Govaerts, Bert de Vries, Johannes S. H. Vles, Annemiek Wagemans, Suzanne Schijns-Fleuren, Gabr

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 656 KB

english, 1995

29

Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation

J.J.M. Engelen, C.T.R.M. Schrander-Stumpel, P.M.V.M. Theunissen, G. Vaes-Peeters, J.C.M. Albrechts, A.J.H. Hamers

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 127 KB

english, 2003

30

Chromosome bands and ends revisited

Ute Moog, John J.M. Engelen, Connie T.R.M. Schrander-Stumpel, Jean-Pierre Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 36 KB

english, 2003

31

Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings

E. Smeets, E. Schollen, U. Moog, G. Matthijs, J. Herbergs, H. Smeets, L. Curfs, C. Schrander-Stumpel, J.P. Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 172 KB

english, 2003

32

Prader–Willi syndrome: Causes of death in an international series of 27 cases

Constance Th.R.M. Schrander-Stumpel, Leopold M.G. Curfs, Prapto Sastrowijoto, Suzanne B. Cassidy, Jaap J.P. Schrander, Jean-Pierre Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 66 KB

english, 2004

33

Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes

D. Marcus-Soekarman, G. Hamers, S. Velzeboer, J. Nijhuis, W.H. Loneus, J. Herbergs, C. de Die-Smulders, C. Schrander-Stumpel, J. Engelen

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 132 KB

english, 2004

34

Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers

Y.H.J.M. Arens, J.J.M. Engelen, L.C.P. Govaerts, C.M. van Ravenswaay, W.H. Loneus, J.C.M. van Lent-Albrechts, M. van der Blij-Philipsen, A.J.H. Hamers, C.T.R.M. Schrander-Stumpel

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 187 KB

english, 2004

35

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

L. Spruijt, J.J.M. Engelen, I.P. Bruinen-Smeijsters, J.C.M. Albrechts, J. Schrander, C.T.R.M. Schrander-Stumpel

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 130 KB

english, 2004

36

Expressive language in children with Kabuki syndrome

Truus Defloor, John van Borsel, Constance T.R.M. Schrander-Stumpel, Leopold M.G. Curfs

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 57 KB

english, 2005

37

Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management

Constance Th.R.M. Schrander-Stumpel, Liesbeth Spruyt, Leopold M.G. Curfs, Truus Defloor, Jaap J.P. Schrander

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 256 KB

english, 2005

38

Symposium introduction

Judith E. Allanson, Constance Schrander-Stumpel

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 29 KB

english, 2005

39

Rett syndrome in females with CTS hot spot deletions: A disorder profile

E. Smeets, P. Terhal, P. Casaer, A. Peters, A. Midro, E. Schollen, K. van Roozendaal, U. Moog, G. Matthijs, J. Herbergs, H. Smeets, L. Curfs, C. Schrander-Stumpel, J.P. Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 96 KB

english, 2005

40

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

Andreas Zankl, Luitgard Neumann, Jaako Ignatius, Peter Nikkels, Connie Schrander-Stumpel, Geert Mortier, Heymut Omran, Michael Wright, Katja Hilbert, Luisa Bonafé, Juergen Spranger, Bernhard Zabel, An

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 264 KB

english, 2005

41

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

Mariëlle E.M. Swinkels, Annet Simons, Dominique F. Smeets, Lisenka E. Vissers, Joris A. Veltman, Rolph Pfundt, Bert B.A. de Vries, Brigitte H.W. Faas, Connie T.R.M. Schrander-Stumpel, Emma McCann, Eli

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 224 KB

english, 2008

42

Rett syndrome and long-term disorder profile

Eric E.J. Smeets, Mickey Chenault, Leopold M.G. Curfs, Connie T.R.M. Schrander-Stumpel, Jean-Pierre Frijns

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 179 KB

english, 2009

43

Physical health problems in adults with Prader–Willi syndrome

Margje Sinnema, Marian A. Maaskant, Henny M.J. van Schrojenstein Lantman-de Valk, I. Caroline van Nieuwpoort, Madeleine L. Drent, Leopold M.G. Curfs, Constance T.R.M. Schrander-Stumpel

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 729 KB

english, 2011

44

Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion

G. Poelmans, J.J.M. Engelen, J. Van Lent-Albrechts, H.J. Smeets, E. Schoenmakers, B. Franke, J.K. Buitelaar, M. Wuisman-Frerker, W. Erens, J. Steyaert, C. Schrander-Stumpel

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 233 KB

english, 2009

45

Healthcare transition in persons with intellectual disabilities: General issues, the Maastricht model, and Prader–Willi syndrome

Constance T.R.M. Schrander-Stumpel, Margje Sinnema, Lieke van den Hout, Marian A. Maaskant, Henny M.J. van Schrojenstein Lantman-de Valk, Annemieke Wagemans, Jaap J.P. Schrander, Leopold M.G. Curfs

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2007

Language:

english

File:

PDF, 210 KB

english, 2007

46

Communication and risk presentation in genetic counseling: Development of a checklist

Mirjam Fransen, Ree Meertens, Connie Schrander-Stumpel

Journal:

Patient Education and Counseling

Year:

2006

Language:

english

File:

PDF, 167 KB

english, 2006

47

Metabolic investigation of a patient with Rett syndrome

J. S. H. Vles, L. J. M. Spaapen, C. Schrander-Stumpel, S. Meer

Journal:

European Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 108 KB

english, 1989

48

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

C. Schrander-Stumpel, P. Meinecke, G. Wilson, G. Gilleseen-Kaesbach, S. Tinschert, R. König, N. Philip, R. Rizzo, J. Schrander, L. Pfeiffer, A. Maat-Kievit, I. van der Burgt, T. van Essen, E. Latta, U

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 2.49 MB

english, 1994

49

Mutation analysis of theMKKSgene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

A. Slavotinek, C. Searby, L. Al-Gazali, R. Hennekam, C. Schrander-Stumpel, M. Orcana-Losa, S. Pardo-Reoyo, A. Cantani, D. Kumar, Q. Capellini, G. Neri, E. Zackai, L. Biesecker

Journal:

Year:

2002

Language:

english

File:

PDF, 90 KB

english, 2002

50

Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine theCYLDlocus on chromosome 16q12–q13

M. Takahashi, E. Rapley, P.J. Biggs, S.R Lakhani, D. Cooke, J. Hansen, E. Blair, B. Hofmann, R. Siebert, G. Turner, D.G. Evans, C. Schrander-Stumpel, F.A. Beemer, W.A. van Vloten, M.H. Breuning, A. va

Journal:

Year:

2000

Language:

english

File:

PDF, 127 KB

english, 2000

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