Maat-Kievit, J.A.: search on Z-Library

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1

Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene

Sharifi, Y., Tjon-Fo-Sang, M. J., Cruysberg, J. R. M., Maat-Kievit, A. J.

Journal:

British Journal of Ophthalmology

Year:

2013

Language:

english

File:

PDF, 200 KB

english, 2013

2

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans

Rutten, Julie W., Boon, Elles M.J., Liem, Michael K., Dauwerse, Johannes G., Pont, Margot J., Vollebregt, Ellen, Maat-Kievit, Anneke J., Ginjaar, Hendrika B., Lakeman, Phillis, van Duinen, Sjoerd G.,

Journal:

Year:

2013

Language:

english

File:

PDF, 384 KB

english, 2013

3

A Hereditary Disorder In the Family and the Family Life Cycle: Huntington Disease as a Paradigm

A. Christine Brouwer-DudokdeWit, Anke Savenije, Moniek W. Zoeteweij, Anneke Maat-Kievit, Aad Tibben

Journal:

Year:

2002

Language:

english

File:

PDF, 1.26 MB

english, 2002

4

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

Sancak, Ozgur, Nellist, Mark, Goedbloed, Miriam, Elfferich, Peter, Wouters, Cokkie, Maat-Kievit, Anneke, Zonnenberg, Bernard, Verhoef, Senno, Halley, Dicky, van den Ouweland, Ans

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

5

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds

M Wentink, M Nellist, M Hoogeveen-Westerveld, B Zonnenberg, D van der Kolk, T van Essen, S-M Park, G Woods, P Cohn-Hokke, W Brussel, E Smeets, A Brooks, D Halley, A van den Ouweland, A Maat-Kievit

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 774 KB

english, 2012

6

Estimating decreased risks for Huntington disease without a test

Reinier Timman, Benno Bonke, Theo Stijnen, Aad Tibben, Anneke Maat-Kievit

Journal:

European Journal of Epidemiology

Year:

2008

Language:

english

File:

PDF, 239 KB

english, 2008

7

Early Cognitive and Motor Symptoms in Identified Carriers of the Gene for Huntington Disease

de Boo, G. M., Tibben, A., Lanser, J. B. K., Jennekens-Schinkel, A., Hermans, J., Maat-Kievit, A., Roos, R. A. C.

Journal:

Archives of Neurology

Year:

1997

Language:

english

File:

PDF, 767 KB

english, 1997

8

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction

Marianne Hoogeveen-Westerveld, Carla Exalto, Anneke Maat-Kievit, Ans van den Ouweland, Dicky Halley, Mark Nellist

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2010

Language:

english

File:

PDF, 1.03 MB

english, 2010

9

Total situs inversus associated with the oculoauriculo-vertebral spectrum

MAAT-KIEVIT, J. A., BARAITSER, M., WINTER, R. M.

Journal:

Clinical Dysmorphology

Year:

1994

File:

PDF, 908 KB

1994

10

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder

Vegt, Rinus, Bertoli-Avella, Aida M, Tulen, Joke H M, de Graaf, Bianca, Verkerk, Annemieke J M H, Vervoort, Jeroen, Twigt, Carla M, Maat-Kievit, Anneke, van Tuijl, Ruud, van der Lijn, Marieke

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 378 KB

english, 2009

11

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

van Rij, MC, de Koning Gans, PAM, Aalfs, CM, Elting, M, Ippel, PF, Maat-Kievit, JA, Vermeer, S, Verschuuren-Bemelmans, CC, van Belzen, MJ, Belfroid, RDM, Losekoot, M, Geraedts, JPM, Roos, RAC, Tibben,

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 546 KB

english, 2014

12

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

van den Ouweland, Ans M W, Elfferich, Peter, Zonnenberg, Bernard A, Arts, Willem F, Kleefstra, Tjitske, Nellist, Mark D, Millan, Jose M, Withagen-Hermans, Caroline, Maat-Kievit, Anneke J A, Halley, Di

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 546 KB

english, 2010

13

G.P.3.09 Cerebellar ataxia, myopathy and sensorimotor neuropathy associated with a mitochondrial m.8363G > A tRNA(Lys) gene mutation: A clinical and biochemical study

E. Brusse, A. Korsten, G. Schoonderwoerd, D. Hellebrekers, J.A. Maat-Kievit, H.J.M. Smeets, I.F.M. De Coo

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

14

Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis

van de Warrenburg, B.P.C., Sinke, R.J., Verschuuren-Bemelmans, C.C., Scheffer, H., Brunt, E.R., Ippel, P.F., Maat-Kievit, J.A., Dooijes, D., Notermans, N.C., Lindhout, D., Knoers, N.V.A.M., Kremer, H.

Journal:

Year:

2002

Language:

english

File:

PDF, 153 KB

english, 2002

15

1.283 Clinical and genetic study of a large Dutch family with autosomal dominant restless legs syndrome

S. Bakker, G. Sas, A. Maat-Kievit, V. Bonifati, A. Boon

Journal:

Parkinsonism & Related Disorders

Year:

2007

Language:

english

File:

PDF, 55 KB

english, 2007

16

Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997)

Maat-Kievit, Anneke, Vegter-van der Vlis, Maria, Zoeteweij, Moniek, Losekoot, Monique, van Haeringen, Arie, Roos, Raymund A.C.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 130 KB

english, 1999

17

Scientific meeting of the Netherlands Society of Child Neurology held in Heeze, 7th of April 1989

Maat-Kievit, J.A., Loonen, M.C.B., Przyrembel, H.

Journal:

Clinical Neurology and Neurosurgery

Year:

1989

Language:

english

File:

PDF, 75 KB

english, 1989

18

Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease

Anneke Maat-Kievit, Paula Helderman-van den Enden, Monique Losekoot, Peter de Knijff, René Belfroid, Maria Vegter-van der Vlis, Raymund Roos, Martijn Breuning

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 121 KB

english, 2001

19

A MELAS-Associated ND1 Mutation Causing Leber Hereditary Optic Neuropathy and Spastic Dystonia

Spruijt, Liesbeth, Smeets, Hubert J., Hendrickx, Alexandra, Bettink-Remeijer, Marijke Wefers, Maat-Kievit, A., Schoonderwoerd, Kees C., Sluiter, Wim, de Coo, Ireneaus F., Hintzen, Rogier Q.

Journal:

Archives of Neurology

Year:

2007

Language:

english

File:

PDF, 102 KB

english, 2007

20

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome

Vered Shkalim, Hagit N. Baris, Gavriel Gal, Ruth Gleiss, Shlomo Calderon, Marja Wessels, Anneke Maat-Kievit, Björn Menten, Elfride De Baere, Raoul C.M. Hennekam, Anja Schirmacher, Sherri Bale, Mordech

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 128 KB

english, 2009

21

Functional characterisation of the TSC1–TSC2 complex to assess multipleTSC2variants identified in single families affected by tuberous sclerosis complex

Mark Nellist, Őzgür Sancak, Miriam Goedbloed, Alwin Adriaans, Marja Wessels, Anneke Maat-Kievit, Marieke Baars, Charlotte Dommering, Ans van den Ouweland, Dicky Halley

Journal:

BMC Medical Genetics

Year:

2008

Language:

english

File:

PDF, 963 KB

english, 2008

22

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

23

Missense mutations to the TSC1 gene cause tuberous sclerosis complex

Nellist, Mark, van den Heuvel, Diana, Schluep, Diane, Exalto, Carla, Goedbloed, Miriam, Maat-Kievit, Anneke, van Essen, Ton, van Spaendonck-Zwarts, Karin, Jansen, Floor, Helderman, Paula

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 345 KB

english, 2008

24

Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2)

Mayer, Karin, Fonatsch, Christa, Wimmer, Katharina, van den Ouweland, Ans MW, Maat-Kievit, Anneke JA

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 201 KB

english, 2014

25

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat-Kievit, Peter Leegwater, Dennis Dooijes, Ben A. Oostra, Peter Heutink

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.45 MB

english, 2003

26

New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles

MAAT-KIEVIT, A.

Journal:

Journal of Medical Genetics

Year:

2001

Language:

english

File:

PDF, 187 KB

english, 2001

27

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

Esther Brusse, Inge de Koning, Anneke Maat-Kievit, Ben A. Oostra, Peter Heutink, John C. van Swieten

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 152 KB

english, 2006

28

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

Horsthemke, B, Maat-Kievit, A, Sleegers, E, van den Ouweland, A, Buiting, K, Lich, C, Mollevanger, P, Beverstock, G, Gillessen-Kaesbach, G, Schwanitz, G

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 934 KB

english, 1996

29

Breakpoint mapping of 13 largeparkindeletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

Peter Elfferich, Marja C. Verleun-Mooijman, J. Anneke Maat-Kievit, Bart P. C. van de Warrenburg, Wilson F. Abdo, Sylvia A. Eshuis, Klaus L. Leenders, Ad Hovestadt, Jan C. M. Zijlmans, Jan-Pieter M. St

Journal:

Year:

2011

Language:

english

File:

PDF, 386 KB

english, 2011

30

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX

Renske Oegema, Anneke Maat-Kievit, Maarten H. Lequin, Rachel Schot, Veerle M.H. Nanninga- van den Neste, Marianne E. Doornbos, Marie C.Y. de Wit, Dicky J. Halley, Grazia M.S. Mancini

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 244 KB

english, 2012

31

Distinct genetic forms of frontotemporal dementia

Seelaar, H., Kamphorst, W., Rosso, S. M., Azmani, A., Masdjedi, R., de Koning, I., Maat-Kievit, J. A., Anar, B., Kaat, L. D., Breedveld, G. J., Dooijes, D., Rozemuller, J. M., Bronner, I. F., Rizzu, P

Journal:

Year:

2008

Language:

english

File:

PDF, 371 KB

english, 2008

32

Large Deletion at the TSC1 Locus in a Family with Tuberous Sclerosis Complex

Nellist, M., Sancak, O., Goedbloed, M.A., Veghel-Plandsoen, M. Van, Maat-Kievit, A., Lindhout, D., Eussen, B.H., De Klein, A., Halley, D.J.J., Ouweland, A.M.W. Van Den

Journal:

Genetic Testing

Year:

2005

Language:

english

File:

PDF, 98 KB

english, 2005

33

The whole truth and nothing but the truth, but what is the truth?

den Berg, H. M. A. v. d. B.-v., Maat-Kievit, A. A.

Journal:

Journal of Medical Genetics

Year:

2001

Language:

english

File:

PDF, 134 KB

english, 2001

34

Predictability of Age at Onset in Huntington Disease in the Dutch Population

MAAT-KIEVIT, ANNEKE, LOSEKOOT, MONIQUE, ZWINDERMAN, KOOS, VLIS, MARIA VEGTER-VAN DER, BELFROID, RENÉ, LOPEZ, FATIMA, VAN OMMEN, GERT-JAN, BREUNING, MARTIJN, ROOS, RAYMUND

Journal:

Medicine (Williams & Wilkins)

Year:

2002

Language:

english

File:

PDF, 671 KB

english, 2002

35

Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 Complex

Santiago Lima, Arthur Jorge, Hoogeveen-Westerveld, Marianne, Nakashima, Akio, Maat-Kievit, Anneke, van den Ouweland, Ans, Halley, Dicky, Kikkawa, Ushio, Nellist, Mark, Singh, Shree Ram

Journal:

Year:

2014

Language:

english

File:

PDF, 3.06 MB

english, 2014

36

Paradox of a better test for Huntington's disease

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2000

Language:

english

File:

PDF, 196 KB

english, 2000

37

A large retinoblastoma detected in a fetus at 21 weeks of gestation

J. A. Maat-Kievit, D. Oepkes, N. G. Hartwig, C. Vermeij-Keers, I. L. Van Kamp, J. J. P. Van De Kamp

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 660 KB

english, 1993

38

Experience in prenatal testing for Huntington's disease in The Netherlands: procedures, results and guidelines (1987–1997)

Anneke Maat-Kievit, Maria Vegter-van der Vlis, Moniek Zoeteweij, Monique Losekoot, Arie van Haeringen, Humphrey Kanhai, Raymund Roos

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 169 KB

english, 1999

39

Estimating Decreased Risks for Huntington Disease without a Test

Reinier Timman, Benno Bonke, Theo Stijnen, Aad Tibben and Anneke Maat-Kievit

Journal:

European Journal of Epidemiology

Year:

2008

Language:

english

File:

PDF, 1.16 MB

english, 2008

40

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

Haasdijk, Remco A, Cheng, Caroline, Maat-Kievit, Anneke J, Duckers, Henricus J

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 417 KB

english, 2012

41

A MELAS-Associated ND1 Mutation Causing Leber Hereditary Optic Neuropathy and Spastic Dystonia

Spruijt, Liesbeth, Smeets, Hubert J., Hendrickx, Alexandra, Bettink-Remeijer, Marijke Wefers, Maat-Kievit, A., Schoonderwoerd, Kees C., Sluiter, Wim, de Coo, Ireneaus F., Hintzen, Rogier Q.

Journal:

Archives of Neurology

Year:

2007

File:

PDF, 102 KB

2007

42

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Paulussen, Aimée DC, Schrander-Stumpel, Constance T, Tserpelis, Demis C J, Spee, Matteus K M, Stegmann, Alexander P A, Mancini, Grazia M, Brooks, Alice S, Collée, Margriet, Maat-Kievit, Anneke, Simon,

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 463 KB

english, 2010

43

P23.3 Novel phenotype: mutation in ARX associated with polymicrogyria and periventricular nodular heterotopia

R. Oegema, A. Maat-Kievit, M.K. Lequin, V. Nanninga, M. Doornbos, M.-C. de Wit, D. Halley, G. Mancini

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 36 KB

english, 2011

44

Two additional cases of the Ohdo blepharophimosis syndrome

Anneke Maat-Kievit, Han G. Brunner, Petra Maaswinkel-Mooij

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 568 KB

english, 1993

45

Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred

Antonetta M.G. Sas, Alessio Di Fonzo, Stef L.M. Bakker, Erik J. Simons, Ben A. Oostra, Anneke J. Maat-Kievit, Agnita J.W. Boon, Vincenzo Bonifati

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 433 KB

english, 2010

46

Diagnosis and management of early- and late-onset cerebellar ataxia

E Brusse, JA Maat-Kievit, JC Van Swieten

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 173 KB

english, 2007

47

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Schepers, Dorien, Doyle, Alexander J, Oswald, Gretchen, Sparks, Elizabeth, Myers, Loretha, Willems, Patrick J, Mansour, Sahar, Simpson, Michael A, Frysira, Helena, Maat-Kievit, Anneke, Van Minkelen, R

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 741 KB

english, 2015

48

Testing the test—why pursue a better test for Huntington disease?

Reinier Timman, Anneke Maat-Kievit, Christine Brouwer-DudokdeWit, Moniek Zoeteweij, Martijn H. Breuning, Aad Tibben

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2003

Language:

english

File:

PDF, 84 KB

english, 2003

49

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

van Vliet, R., Breedveld, G., de Rijk-van Andel, J., Brilstra, E., Verbeek, N., Verschuuren-Bemelmans, C., Boon, M., Samijn, J., Diderich, K., van de Laar, I., Oostra, B., Bonifati, V., Maat-Kievit, A

Journal:

Year:

2012

Language:

english

File:

PDF, 599 KB

english, 2012

50

Assessing genetic effects in survival data by correlating martingale residuals with an application to age at onset of Huntington disease

Claire M. A. Wintrebert, Aeilko H. Zwinderman, Anneke Maat-Kievit, Raymund A. Roos, Hans C. van Houwelingen

Journal:

Statistics in Medicine

Year:

2006

Language:

english

File:

PDF, 121 KB

english, 2006

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