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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

Année:

2005

Langue:

english

Fichier:

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

Année:

2008

Langue:

english

Fichier:

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

Année:

1993

Langue:

english

Fichier:

PDF, 1.28 MB

english, 1993

4

The Fitz-Hugh-Curtis syndrome, an unusual presentation

A.M. Schrander-v.d. Meer, Chr.A. de Nooyer, J. Ferwerda

Journal:

The Netherlands Journal of Medicine

Année:

1995

Langue:

english

Fichier:

PDF, 185 KB

english, 1995

5

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

Année:

2007

Langue:

english

Fichier:

PDF, 161 KB

english, 2007

6

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

Année:

2012

Langue:

english

Fichier:

PDF, 148 KB

english, 2012

7

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

Année:

1993

Langue:

english

Fichier:

PDF, 513 KB

english, 1993

8

Otoacoustic emissions in screening cleft lip and/or palate children for hearing loss—a feasibility study

Lucien J.C Anteunis, Patrick Brienesse, Jacobus J.P Schrander

Journal:

International Journal of Pediatric Otorhinolaryngology

Année:

1998

Langue:

english

Fichier:

PDF, 157 KB

english, 1998

9

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

Année:

2012

Langue:

english

Fichier:

PDF, 610 KB

english, 2012

10

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

Année:

2007

Langue:

english

Fichier:

PDF, 2.14 MB

english, 2007

11

Does food intolerance play a role in juvenile chronic arthritis?

Schrander, J. J., Marcelis, C., de Vries, M. P., van Santen-Hoeufft, H. M.

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 72 KB

english, 1997

12

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:

Année:

2002

Langue:

english

Fichier:

PDF, 565 KB

english, 2002

13

Neonatal Marfan syndrome: clinical report and review of the literature

Heide, Henriette ter, Schrander- Stumpel, Constance T.R.M., Pals, Gerard, Delhaas, Tammo

Journal:

Clinical Dysmorphology

Année:

2005

Langue:

english

Fichier:

PDF, 191 KB

english, 2005

14

γ-Linolenic acid supplementation for prophylaxis of atopic dermatitis—a randomized controlled trial in infants at high familial risk

van Gool, Christel JAW, Thijs, Carel, Henquet, Charles JM, van Houwelingen, Adriana C, Dagnelie, Pieter C, Schrander, Jaap, Menheere, Paul PCA, van den Brandt, Piet A

Journal:

American Journal of Clinical Nutrition

Année:

2003

Langue:

english

Fichier:

PDF, 131 KB

english, 2003

15

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

Année:

1998

Langue:

english

Fichier:

PDF, 186 KB

english, 1998

16

Erratum

Schrander-Stumpel, Connie T.R.M.

Journal:

American Journal of Medical Genetics

Année:

1998

Fichier:

PDF, 125 KB

1998

17

Erratum

Schrander-Stumpel, Connie T.R.M.

Journal:

American Journal of Medical Genetics

Année:

1998

Fichier:

PDF, 35 KB

1998

18

What's in a name?

Schrander-Stumpel, Connie T.R.M.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 28 KB

english, 1998

19

Preconception care: Challenge of the new millennium?

Schrander-Stumpel, Connie

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 69 KB

english, 1999

20

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

Année:

2001

Langue:

english

Fichier:

PDF, 410 KB

english, 2001

21

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

Année:

2002

Langue:

english

Fichier:

PDF, 240 KB

english, 2002

22

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

Année:

1988

Langue:

english

Fichier:

PDF, 253 KB

english, 1988

23

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

Année:

1990

Langue:

english

Fichier:

PDF, 334 KB

english, 1990

24

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

Année:

1991

Langue:

english

Fichier:

PDF, 497 KB

english, 1991

25

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

Année:

1991

Langue:

english

Fichier:

PDF, 514 KB

english, 1991

26

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

Année:

1992

Langue:

english

Fichier:

PDF, 487 KB

english, 1992

27

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

Année:

1992

Langue:

english

Fichier:

PDF, 529 KB

english, 1992

28

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

Année:

1993

Langue:

english

Fichier:

PDF, 88 KB

english, 1993

29

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

Année:

1994

Langue:

english

Fichier:

PDF, 373 KB

english, 1994

30

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

Année:

1994

Langue:

english

Fichier:

PDF, 57 KB

english, 1994

31

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

Année:

1994

Langue:

english

Fichier:

PDF, 159 KB

english, 1994

32

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

Année:

1995

Langue:

english

Fichier:

PDF, 1.10 MB

english, 1995

33

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

Année:

1995

Langue:

english

Fichier:

PDF, 656 KB

english, 1995

34

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

Année:

2003

Langue:

english

Fichier:

PDF, 127 KB

english, 2003

35

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

Année:

2003

Langue:

english

Fichier:

PDF, 36 KB

english, 2003

36

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

Année:

2003

Langue:

english

Fichier:

PDF, 172 KB

english, 2003

37

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

Année:

2004

Langue:

english

Fichier:

PDF, 66 KB

english, 2004

38

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

Année:

2004

Langue:

english

Fichier:

PDF, 132 KB

english, 2004

39

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

Année:

2004

Langue:

english

Fichier:

PDF, 187 KB

english, 2004

40

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

Année:

2004

Langue:

english

Fichier:

PDF, 130 KB

english, 2004

41

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

Année:

2005

Langue:

english

Fichier:

PDF, 57 KB

english, 2005

42

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

Année:

2005

Langue:

english

Fichier:

PDF, 256 KB

english, 2005

43

Symposium introduction

Judith E. Allanson, Constance Schrander-Stumpel

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 29 KB

english, 2005

44

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

Année:

2005

Langue:

english

Fichier:

PDF, 96 KB

english, 2005

45

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

Année:

2005

Langue:

english

Fichier:

PDF, 264 KB

english, 2005

46

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation

David B. Everman, Chad T. Morgan, Robert Lyle, Mary E. Laughridge, Michael J. Bamshad, Katie B. Clarkson, Randall Colby, Fiorella Gurrieri, A. Micheil Innes, Jacquelyn Roberson, Connie Schrander-Stump

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 203 KB

english, 2006

47

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

Année:

2008

Langue:

english

Fichier:

PDF, 224 KB

english, 2008

48

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

Année:

2009

Langue:

english

Fichier:

PDF, 179 KB

english, 2009

49

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

Année:

2011

Langue:

english

Fichier:

PDF, 729 KB

english, 2011

50

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

Année:

2009

Langue:

english

Fichier:

PDF, 233 KB

english, 2009