R. van Ravenswaaij: search on Z-Library

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1

Growth charts for Wolf-Hirschhorn syndrome (0–4 years of age)

T. Antonius, J. Draaisma, E. Levtchenko, N. Knoers, W. Renier, C. van Ravenswaaij

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 417 KB

english, 2008

2

Prevalence of Genetic Testing in CHARGE Syndrome

Timothy S. Hartshorne, Kasee K. Stratton, Conny M. A. van Ravenswaaij-Arts

Journal:

Journal of Genetic Counseling

Year:

2011

Language:

english

File:

PDF, 198 KB

english, 2011

3

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

P Rump, T Dijkhuizen, B Sikkema-Raddatz, HH Lemmink, YJ Vos, JBGM Verheij, CMA Van Ravenswaaij

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 434 KB

english, 2008

4

Study of smell and reproductive organs in a mouse model for CHARGE syndrome

Bergman, Jorieke EH, Bosman, Erika A, van Ravenswaaij-Arts, Conny MA, Steel, Karen P

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1006 KB

english, 2009

5

Update on Kleefstra Syndrome

Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.

Journal:

Molecular Syndromology

Year:

2012

Language:

english

File:

PDF, 497 KB

english, 2012

6

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

Bergman, J. E. H., Janssen, N., Hoefsloot, L. H., Jongmans, M. C. J., Hofstra, R. M. W., van Ravenswaaij-Arts, C. M. A.

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 938 KB

english, 2011

7

The influence of physiological parameters on long term heart rate variability in healthy preterm infants

van Ravenswaaij-Arts, Conny M. A., Hopman, Jeroen C. W., Kollée, Louis A. A., Stoelinga, Gerard B. A.

Journal:

Journal of Perinatal Medicine

Year:

1990

Language:

english

File:

PDF, 1.33 MB

english, 1990

8

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Bri

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.76 MB

english, 2016

9

Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe)

Trider, Carrie-Lee, Arra-Robar, Angela, van Ravenswaaij-Arts, Conny, Blake, Kim

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

10

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

Hitzert, M. M., van der Crabben, S. N., Baldewsingh, G., van Amstel, H. K. Ploos, van den Wijngaard, A., van Ravenswaaij-Arts, C. M. A., Zijlmans, C. W. R.

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 925 KB

english, 2019

11

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

Hitzert, M. M., van der Crabben, S. N., Baldewsingh, G., van Amstel, H. K. Ploos, van den Wijngaard, A., van Ravenswaaij-Arts, C. M. A., Zijlmans, C. W. R.

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 925 KB

2019

12

Craniosynostosis associated with ectopia lentis in monozygotic twin sisters

Cruysberg, Johan R.M., van Ravenswaaij-Arts, Conny M.A., Pinckers, Alfred, Roddi, Roberto, Brunner, Han G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 450 KB

english, 1999

13

MISINTERPRETATION OF TRISOMY 18 AS A PSEUDOMOSAICISM AT THIRD-TRIMESTER AMNIOCENTESIS OF A CHILD WITH A MOSAIC 46,XY/47,XY,+3/48,XXY,+18 KARYOTYPE

C. M. A. VAN RAVENSWAAIJ-ARTS, J. H. A. M. TUERLINGS, A. F. J. VAN HEYST, J. G. NIJHUIS, J. NIEHOF, D. F. C. M. SMEETS

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 285 KB

english, 1997

14

CHARGE syndrome: Relations between behavioral characteristics and medical conditions

Mathijs P.J. Vervloed, Marella A.A. Hoevenaars-van den Boom, Harry Knoors, Conny M.A. van Ravenswaaij, Ronald J.C. Admiraal

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 138 KB

english, 2006

15

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

Ilse Feenstra, Lisenka E.L.M. Vissers, Mirjam Orsel, Ad Geurts van Kessel, Han G. Brunner, Joris A. Veltman, Conny M.A. van Ravenswaaij-Arts

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 269 KB

english, 2007

16

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome

Vera M. Kalscheuer, Ilse Feenstra, Conny M.A. Van Ravenswaaij-Arts, Dominique F.C.M. Smeets, Corinna Menzel, Reinhard Ullmann, Luciana Musante, Hans-Hilger Ropers

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 306 KB

english, 2008

17

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

Servi J.C. Stevens, Conny M.A. van Ravenswaaij-Arts, Jannie W.H. Janssen, Jolien S. Klein Wassink-Ruiter, Anthonie J. van Essen, Trijnie Dijkhuizen, Jeroen van Rheenen, Regina Heuts-Vijgen, Alexander

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 564 KB

english, 2011

18

First-trimester serum PAPP-A and fβ-hCG concentrations and other maternal characteristics to establish logistic regression-based predictive rules for adverse pregnancy outcome

R. van Ravenswaaij, M. Tesselaar-van der Goot, S. de Wolf, M. van Leeuwen-Spruijt, G. H. A. Visser, P. C. J. I. Schielen

Journal:

Prenatal Diagnosis

Year:

2011

Language:

english

File:

PDF, 128 KB

english, 2011

19

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics

Josette Wulffaert, Evert M. Scholte, Yvette M. Dijkxhoorn, Jorieke E. H. Bergman, Conny M. A. van Ravenswaaij-Arts, Ina A. van Berckelaer-Onnes

Journal:

Journal of Developmental and Physical Disabilities

Year:

2009

Language:

english

File:

PDF, 182 KB

english, 2009

20

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization

DA Koolen, LELM Vissers, W Nillesen, D Smeets, CMA Van Ravenswaaij, EA Sistermans, JA Veltman, BDA De Vries

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 1.10 MB

english, 2004

21

A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation

van Steensel, Maurice A.M., Steijlen, Peter M., Bladergroen, Reno S., Hoefsloot, Elisabeth H., van Ravenswaaij-Arts, Connie M., van Geel, Michel

Journal:

The Journal of Investigative Dermatology

Year:

2004

Language:

english

File:

PDF, 1.18 MB

english, 2004

22

CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

MCJ Jongmans, CMA Van Ravenswaaij-Arts, N Pitteloud, T Ogata, N Sato, HL Claahsen-van der Grinten, K Van Der Donk, S Seminara, JEH Bergman, HG Brunner, WF Crowley Jr, LH Hoefsloot

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 116 KB

english, 2009

23

Death in CHARGE syndrome after the neonatal period

JEH Bergman, KD Blake, MK Bakker, GJ Du Marchie Sarvaas, RH Free, CMA Van Ravenswaaij-Arts

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 643 KB

english, 2010

24

Recurring HRAS mutation G12S in Dutch patients with Costello syndrome

M. A. M. Van Steensel, M. Vreeburg, C. Peels, C. M. Van Ravenswaaij-Arts, E. Bijlsma, C. T. Schrander-Stumpel, M. Van Geel

Journal:

Experimental Dermatology

Year:

2006

Language:

english

File:

PDF, 123 KB

english, 2006

25

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

van Silfhout, Anneke T, van den Akker, Peter C, Dijkhuizen, Trijnie, Verheij, Joke B G M, Olderode-Berends, Maran J W, Kok, Klaas, Sikkema-Raddatz, Birgit, van Ravenswaaij-Arts, Conny M A

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 355 KB

english, 2009

26

Clinical utility gene card for: CHARGE syndrome

Blake, Kim, van Ravenswaaij-Arts, Conny MA, Hoefsloot, Lies, Verloes, Alain

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 166 KB

english, 2011

27

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Hofstra, Robert M.W., Osinga, Jan, Tan-Sindhunata, Gita, Wu, Ying, Kamsteeg, Erik-J., Stulp, Rein P., Ravenswaaij-Arts, Conny van, Majoor-Krakauer, Daniëlle, Angrist, Misha, Chakravarti, Aravinda

Journal:

Nature Genetics

Year:

1996

File:

PDF, 315 KB

1996

28

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Vissers, Lisenka E L M, van Ravenswaaij, Conny M A, Admiraal, Ronald, Hurst, Jane A, de Vries, Bert B A, Janssen, Irene M, van der Vliet, Walter A, Huys, Erik H L P G, de Jong, Pieter J, Hamel, Ben C

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 257 KB

english, 2004

29

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23–q24

van der Vleuten, A J W, van Ravenswaaij-Arts, C M A, Frijns, C J M, Smits, A P T, Hageman, G, Padberg, G W, Kremer, H

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 136 KB

english, 1998

30

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Koolen, David A, Reardon, William, Rosser, Elisabeth M, Lacombe, Didier, Hurst, Jane A, Law, Caroline J, Bongers, Ernie M H F, van Ravenswaaij-Arts, Conny M, Leisink, Martijn A R, van Kessel, Ad Geurt

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 155 KB

english, 2005

31

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Vermeesch, Joris Robert, Fiegler, Heike, de Leeuw, Nicole, Szuhai, Karoly, Schoumans, Jacqueline, Ciccone, Roberto, Speleman, Frank, Rauch, Anita, Clayton-Smith, Jill, Van Ravenswaaij, Conny

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 125 KB

english, 2007

32

Diagnostic interpretation of array data using public databases and internet sources

Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y. Hehir-Kwa, Nigel P. Carter, Lars Feuk, Helen V. Firth, Robert M. Kuhn, David H. Ledbetter, Christa Lese Martin, Conny M. A. van Ravenswaaij-Arts, Steven W

Journal:

Year:

2012

Language:

english

File:

PDF, 427 KB

english, 2012

33

Mutation update on the CHD7 gene involved in CHARGE syndrome

Nicole Janssen, Jorieke E. H. Bergman, Morris A. Swertz, Lisbeth Tranebjaerg, Marianne Lodahl, Jeroen Schoots, Robert M. W. Hofstra, Conny M. A. van Ravenswaaij-Arts, Lies H. Hoefsloot

Journal:

Year:

2012

Language:

english

File:

PDF, 348 KB

english, 2012

34

The introduction of arrays in prenatal diagnosis: A special challenge

Annalisa Vetro, Katelijne Bouman, Ros Hastings, Dominic J. McMullan, Joris R. Vermeesch, Konstantin Miller, Birgit Sikkema-Raddatz, David H. Ledbetter, Orsetta Zuffardi, Conny M.A. van Ravenswaaij-Art

Journal:

Year:

2012

Language:

english

File:

PDF, 169 KB

english, 2012

35

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

Jorieke E.H. Bergman, Nicole Janssen, Almer M. van der Sloot, Hermien E.K. de Walle, Jeroen Schoots, Nanna D. Rendtorff, Lisbeth Tranebjærg, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij-Arts, Robert

Journal:

Year:

2012

Language:

english

File:

PDF, 399 KB

english, 2012

36

The influence of respiratory distress syndrome on heart rate variability in very preterm infants

Conny M.A. van Ravenswaaij-Arts, Jeroen C.W. Hopman, Louis AA. Kollée, Joop P.L. van Amen, Gerard B.A. Stoelinga, Herman P. van Geijn

Journal:

Early Human Development

Year:

1991

Language:

english

File:

PDF, 1.07 MB

english, 1991

37

Influences on heart rate variability in spontaneously breathing preterm infants

Conny M.A. van Ravenswaaij-Arts, Jeroen C.W. Hopman, Louis A.A. Kollée, Joop P.L. van Amen, Gerard B.A. Stoelinga, Herman P. van Geijn

Journal:

Early Human Development

Year:

1991

Language:

english

File:

PDF, 1.37 MB

english, 1991

38

Dynamics of vasomotor thermoregulation of the skin in term and preterm neonates

Timo Jahnukainen, Conny van Ravenswaaij-Arts, Jarmo Jalonen, Ilkka Välimäki

Journal:

Early Human Development

Year:

1993

Language:

english

File:

PDF, 804 KB

english, 1993

39

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

Ilse Feenstra, Lisenka E.L.M. Vissers, Ronald J.E. Pennings, Willy Nillessen, Rolph Pfundt, Henricus P. Kunst, Ronald J. Admiraal, Joris A. Veltman, Conny M.A. van Ravenswaaij-Arts, Han G. Brunner, Co

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 558 KB

english, 2011

40

Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene

Anita Bonne, Lilian Vreede, Roland P. Kuiper, Danielle Bodmer, Corine Jansen, Marc Eleveld, Femke van Erp, Ger Arkesteijn, Nicoline Hoogerbrugge, Conny van Ravenswaaij, Eric F.P.M. Schoenmakers, Ad Ge

Journal:

Cancer Genetics and Cytogenetics

Year:

2007

Language:

english

File:

PDF, 491 KB

english, 2007

41

Anosmia Predicts Hypogonadotropic Hypogonadism in CHARGE Syndrome

Jorieke E.H. Bergman, Gianni Bocca, Lies H. Hoefsloot, Linda C. Meiners, Conny M.A. van Ravenswaaij-Arts

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

42

Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients

G.J.C.M. Van Buggenhout, C. van Ravenswaaij-Arts, H. Mieloo, M. Syrrou, B. Hamel, H. Brunner, J.P. Fryns

Journal:

Annales de Génétique

Year:

2001

Language:

english

File:

PDF, 29 KB

english, 2001

43

Interstitial 6q deletion with a Prader--Willi-like phenotype: a new case and review of the literature

H. Jacobus Gilhuis, Conny Ma van Ravenswaaij, Ben J.C. Hamel, Fons J.M. Gabreëls

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 252 KB

english, 2000

44

The Results of CHD7 Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome

Bergman, J. E. H., de Ronde, W., Jongmans, M. C. J., Wolffenbuttel, B. H. R., Drop, S. L. S., Hermus, A., Bocca, G., Hoefsloot, L. H., van Ravenswaaij-Arts, C. M. A.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2012

Language:

english

File:

PDF, 134 KB

english, 2012

45

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients

G. Van Buggenhout, C. Van Ravenswaaij-Arts, N. MC Maas, R. Thoelen, A. Vogels, Dominique Smeets, I. Salden, G. Matthijs, J.-P. Fryns, J.R. Vermeesch

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 379 KB

english, 2005

46

Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature

I. Feenstra, D.A. Koolen, J. Van der Pas, B.C.J. Hamel, H. Mieloo, D.F.C.M. Smeets, C.M.A Van Ravenswaaij

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 326 KB

english, 2006

47

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities

I. Feenstra, J. Fang, D.A. Koolen, A. Siezen, C. Evans, R.M. Winter, M.M. Lees, M. Riegel, B.B.A. de Vries, C.M.A. Van Ravenswaaij, A. Schinzel

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 907 KB

english, 2006

48

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene

Jorieke E.H. Bergman, Hermine E. Veenstra-Knol, Anthonie J. van Essen, Conny M.A. van Ravenswaaij, Wilfred F.A. den Dunnen, Arthur van den Wijngaard, J. Peter van Tintelen

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 929 KB

english, 2007

49

Emerging microdeletion and microduplication syndromes; the counseling paradigm

Conny M.A. van Ravenswaaij-Arts, Tjitske Kleefstra

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

50

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

Jorieke E.H. Bergman, Ilse de Wijs, Marjolijn C.J. Jongmans, Ronald J. Admiraal, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij-Arts

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 364 KB

english, 2008