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1

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

2

The unfolding clinical spectrum of POLG mutations

Blok, M J, van den Bosch, B J, Jongen, E, Hendrickx, A, de Die-Smulders, C E, Hoogendijk, J E, Brusse, E, de Visser, M, Poll-The, B T, Bierau, J, de Coo, I F, Smeets, H J

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 300 KB

english, 2009

3

Phenotypic and molecular insights into CASK-related disorders in males

Moog, Ute, Bierhals, Tatjana, Brand, Kristina, Bautsch, Jan, Biskup, Saskia, Brune, Thomas, Denecke, Jonas, de Die-Smulders, Christine E, Evers, Christina, Hempel, Maja, Henneke, Marco, Yntema, Helger

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 3.41 MB

english, 2015

4

Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices

Sallevelt, Suzanne C E H, Dreesen, Joseph C F M, Coonen, Edith, Paulussen, Aimee D C, Hellebrekers, Debby M E I, de Die-Smulders, Christine E M, Smeets, Hubert J M, Lindsey, Patrick

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 543 KB

english, 2017

5

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

Van Damme, Tim, Pang, Xiaomeng, Guillemyn, Brecht, Gulberti, Sandrine, Syx, Delfien, De Rycke, Riet, Kaye, Olivier, de Die-Smulders, Christine E M, Pfundt, Rolph, Kariminejad, Ariana, Nampoothiri, She

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 339 KB

english, 2018

6

Preserving fertility in young women undergoing chemotherapy for early breast cancer; the Maastricht experience

Vriens, Ingeborg J. H., ter Welle-Butalid, Elena M., de Boer, Maaike, de Die-Smulders, Christine E. M., Derhaag, Josien G., Geurts, Sandra M. E., van Hellemond, Irene E. G., Luiten, Ernest J. T., Derc

Journal:

Breast Cancer Research and Treatment

Year:

2020

File:

PDF, 753 KB

2020

7

11Q duplication in a patient with Pitt-Rogers-Danks phenotype.

de Die-Smulders, Christine E.M., Engelen, John J.M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 183 KB

english, 1996

8

The Dutch uniform multicenter registration system for genetic disorders and malformation syndromes

Zwamborn-Hanssen, A. Monic N., Bijlsma, Jan B., Hennekam, Eric F. A. M., Lindhout, Dick, Beemer, Frits A., Bakker, Egbert, Kleijer, Wim J., de France, Henny F., de Die-Smulders, Christine E. M., Duran

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 119 KB

english, 1997

9

Pfeiffer syndrome type 2: Further delineation and review of the literature

Plomp, Astrid S., Hamel, Ben C.J., Cobben, Jan M., Verloes, Alain, Offermans, Jos P.M., Lajeunie, Elisabeth, Fryns, Jean Pierre, de Die-Smulders, Christine E.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 251 KB

english, 1998

10

Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in theKRT5 gene in further patients

Moog, U., de Die-Smulders, C.E.M., Scheffer, H., van der Vlies, P., Henquet, C.J.M., Jonkman, M.F.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 264 KB

english, 1999

11

Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: Value of FISH over high resolution banding

de Die-Smulders, Christine E.M., Engelen, John J.M., Albrechts, Josefa C.M., Hamers, Guus J.H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 2.16 MB

english, 1999

12

Anencephaly in monozygotic twins and recurrence risk

S. G. M. Frints, C. E. M. de Die-Smulders, T. H. M. Hasaart

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 123 KB

english, 1998

13

Familial dup(8)(p12p21.1): Mild phenotypic effect and review of partial 8p duplications

U. Moog, J.J.M. Engelen, J.C.M. Albrechts, L.G.M. Baars, C.E.M. de Die-Smulders

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 625 KB

english, 2000

14

Behavioral phenotype in childhood type of dystrophia myotonica

J. Steyaert, C. de Die-Smulders, J.P. Fryns, E. Goossens, D. Willekens

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 48 KB

english, 2000

15

De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH

J.F. Sanchez-Garcia, C.E.M. de Die-Smulders, J.W. Weber, A.G.P. Jetten, W.H. Loneus, A.J.H. Hamers, J.J.M. Engelen

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 168 KB

english, 2001

16

Duplication of chromosome region (16)(p11.2 → p12.1) in a mother and daughter with mild mental retardation

J.J.M. Engelen, C.E.M. de Die-Smulders, R. Dirckx, W.M.A. Verhoeven, S. Tuinier, L.M.G. Curfs, A.J.H. Hamers

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 90 KB

english, 2002

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)

Liesbeth Spruijt, Pieter Verdyck, Wim Van Hul, Wim Wuyts, Christine de Die-Smulders

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 94 KB

english, 2005

25

Myhre syndrome in a female with previously undescribed symptoms: Further delineation of the phenotype

M.A.M. van Steensel, M. Vreeburg, P.M. Steijlen, C. de Die-Smulders

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 204 KB

english, 2005

26

Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum

L. Spruijt, L.H. Hoefsloot, G.H.W.H. van Schaijk, D. van Waardenburg, B. Kremer, H.J.L. Brackel, C.E.M. de Die-Smulders

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 131 KB

english, 2006

27

Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome

M.A.M. van Steensel, R.P.M. Ceulen, T. Delhaas, C. de Die-Smulders

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 178 KB

english, 2007

28

Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle's Disease

M. A. Martín, J. C. Rubio, R. A. Wevers, B. G. M. Van Engelen, G. C. H. Steenbergen, O. P. Van Diggelen, M. De Visser, C. De Die-Smulders, A. Blázquez, A. L. Andreu, J. Arenas

Journal:

Annals of Human Genetics

Year:

2004

Language:

english

File:

PDF, 115 KB

english, 2004

29

Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis

Christine Willekes, Frans J. M. E. Roumen, Anne-Marie W. van Elsacker-Niele, Harro T. Weiland, Christl Vermey-Keers, Johan H. J. M. van Krieken, Christine E. M. de Die-Smulders, Guus J. H. Hamers, Ger

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 509 KB

english, 1994

30

Severe limb defects and craniofacial anomalies in a fetus conceived during acitretin therapy

Christine E. M. De Die-Smulders, Mirjam C. J. M. Sturkenboom, Joep Veraart, Cees Van Katwijk, Prapto Sastrowijoto, Ed van der Linden

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1995

Language:

english

File:

PDF, 1.34 MB

english, 1995

31

McKusick-Kaufman syndrome: The diagnostic challenge of abdominal distension in the neonatal period

C. Schaap, C. E. M. de Die-Smulders, R. H. Kuijten, J. P. Fryns

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 251 KB

english, 1992

32

Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion

K. E. Chandler, C. E. M. de Die-Smulders, J. J. M. Engelen, J. J. P. Schrander, C. E. M. de Die-Smulders

Journal:

European Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 446 KB

english, 1997

33

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements ofDPYDand a de novo interstitial deletion del(1)(p13.3p21.3)

André B. P. van Kuilenburg, Judith Meijer, Adri N. P. M. Mul, Raoul C. M. Hennekam, Jan M. N. Hoovers, Christine E. M. de Die-Smulders, Peter Weber, Andrea Capone Mori, Jörgen Bierau, Brian Fowler, Kl

Journal:

Year:

2009

Language:

english

File:

PDF, 537 KB

english, 2009

34

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

E. A. M. Janssen, Stephan Kemp, Gerard W. Hensels, Ongie G. Sie, Christine E. M. de Die-Smulders, Jessica E. Hoogendijk, Marianne de Visser, Pieter A. Bolhuis

Journal:

Year:

1997

Language:

english

File:

PDF, 31 KB

english, 1997

35

Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH

E. Martini, A. R. M. von Bergh, E. Coonen, C. E. M. de Die-Smulders, A. H. N. Hopman, F. C. S. Ramaekers, J. P. M. Geraedts

Journal:

Year:

1998

Language:

english

File:

PDF, 588 KB

english, 1998

36

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations

NV Whittock, S Ellard, J Duncan, CEM De Die-Smulders, JSH Vles, PD Turnpenny

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 818 KB

english, 2004

37

A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy

J. Steyaert, S. Umans, D. Willekens, E. Legius, E. Pijkels, C. de Die-Smulders, H. Van den Berghe, J-P. Fryns

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 651 KB

english, 1997

38

Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations

U. Moog, C. de Die-Smulders, J. M. J. Systermans, J. M. Cobben

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 1.88 MB

english, 1997

39

Peripheral neuropathy in myotonic dystrophy type 1

Mieke C. E. Hermans, Catharina G. Faber, Els K. Vanhoutte, Mayienne Bakkers, Marc H. De Baets, Christine E. M. de Die-Smulders, Ingemar S. J. Merkies

Journal:

Journal of the Peripheral Nervous System

Year:

2011

Language:

english

File:

PDF, 460 KB

english, 2011

40

To Test or Not to Test? Metabolic Testing in Adolescents and Adults With Intellectual Disability

Ute Moog, Christine De Die-Smulders, Herman Martens, Connie Schrander-Stumpel, Leo Spaapen

Journal:

Journal of Policy and Practice in Intellectual Disabilities

Year:

2008

Language:

english

File:

PDF, 87 KB

english, 2008

41

Non-invasive prenatal testing: ethical issues explored

de Jong, Antina, Dondorp, Wybo J, de Die-Smulders, Christine E M, Frints, Suzanne G M, de Wert, Guido M W R

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 276 KB

english, 2009

42

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

Bredenoord, Annelien, Dondorp, Wybo, Pennings, Guido, de Die-Smulders, Christine, Smeets, Bert, de Wert, Guido

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 135 KB

english, 2009

43

Advances in prenatal screening: the ethical dimension

de Jong, Antina, Dondorp, Wybo J., Frints, Suzanna G. M., de Die-Smulders, Christine E. M., de Wert, Guido M. W. R.

Journal:

Nature Reviews Genetics

Year:

2011

Language:

english

File:

PDF, 417 KB

english, 2011

44

Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites

M. Claeys, M. Van Der Hoeven, C. de Die-Smulders>, J. A. Bakker, J. P. M. Offermans, P-Ph. Forget, J. E. M. Groener, L. J. M. Spaapen

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 38 KB

english, 1999

45

Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent

Wybo Dondorp, Birgit Sikkema-Raddatz, Christine de Die-Smulders, Guido de Wert

Journal:

Year:

2012

Language:

english

File:

PDF, 159 KB

english, 2012

46

Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?

I. A. W. van Rijsingen, J. F. Hermans-van Ast, Y. H. J. M. Arens, S. M. Schalla, C. E. M de Die-Smulders, A. van den Wijngaard, Y. M. Pinto

Journal:

Netherlands Heart Journal

Year:

2009

Language:

english

File:

PDF, 117 KB

english, 2009

47

On the origin of recurrent trisomy 21: determination using chromosomal and DNA polymorphisms

A. J. H. Hamers, G. P. M. Vaes-Peeters, R. J. E. Jongbloed, A. M. Millington-Ward, H. Meujer, C. E. M. De Die-Smulders, J. P. M. Geraedts

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 365 KB

english, 1987

48

Partial trisomy and monosomy 8p due to inversion duplication

J. J. M. Engelen, C. E. M. de Die-Smulders, J. P. Fryns, J. M. N. Hoovers, J. C. M. Albrechts, W. J. G. Loots, M. E. Jacobs, A. J. H. Hamers

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 502 KB

english, 1994

49

Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication

U. Moog, J. J. M. Engelen, C. E. M. de Die-Smulders, J. C. M. Albrechts, W. H. Loneus, A. A. M. Haagen, E. J. M. Raven, A. J. H. Hamers

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 644 KB

english, 1994

50

SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations

van Uum, Chris MJ, Stevens, Servi JC, Dreesen, Joseph CFM, Drüsedau, Marion, Smeets, Hubert J, Hollanders-Crombach, Bertien, Die-Smulders, Christine EM de, Geraedts, Joep PM, Engelen, John JM, Coonen,

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 379 KB

english, 2012