Robert M W Hofstra: search on Z-Library

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1

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants

Mark Drost, José B.M. Zonneveld, Sandrine van Hees, Lene Juel Rasmussen, Robert M.W. Hofstra, Niels de Wind

Journal:

Year:

2012

Language:

english

File:

PDF, 425 KB

english, 2012

2

Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic?

Reetta Kariola, Robyn Otway, Karin E. Lönnqvist, Tiina E. Raevaara, Finlay Macrae, Yvonne J. Vos, Maija Kohonen-Corish, Robert M. Hofstra, Minna Nyström-Lahti

Journal:

Year:

2003

Language:

english

File:

PDF, 245 KB

english, 2003

3

A biological question and a balanced (orthogonal) design: the ingredients to efficiently analyze two-color microarrays with Confirmatory Factor Analysis

Anne PG Crijns, Frans Gerbens, A Edo D Plantinga, Gert Jan Meersma, Steven de Jong, Robert MW Hofstra, Elisabeth GE de Vries, Ate GJ van der Zee, Geertruida H de Bock, Gerard J te Meerman

Journal:

Year:

2006

Language:

english

File:

PDF, 762 KB

english, 2006

4

How do settlement systems evolve? The Virginia backcountry during the eighteenth century

Robert D. Mitchell, Warren R. Hofstra

Journal:

Journal of Historical Geography

Year:

1995

Language:

english

File:

PDF, 8.95 MB

english, 1995

5

Moisture–absorption, dielectric relaxation, and thermal conductivity studies of polymer composites

Xin Lu, Gu Xu, Peter G. Hofstra, Robert C. Bajcar

Journal:

Journal of Polymer Science Part B: Polymer Physics

Year:

1998

Language:

english

File:

PDF, 165 KB

english, 1998

6

Getting rid of the PMS2 pseudogenes: mission impossible?

Renée C. Niessen, Jan H. Kleibeuker, Paul O.J. Jager, Rolf H. Sijmons, Robert M.W. Hofstra

Journal:

Year:

2007

Language:

english

File:

PDF, 91 KB

english, 2007

7

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

Jianghua Ou, Renée C. Niessen, Anne Lützen, Rolf H. Sijmons, Jan. H. Kleibeuker, Niels de Wind, Lene Juel Rasmussen, Robert M.W. Hofstra

Journal:

Year:

2007

Language:

english

File:

PDF, 178 KB

english, 2007

8

High Frequency of TP53 Mutations in Juvenile Pilocytic Astrocytomas Indicates Role of TP53 in the Development of These Tumors

Vanessa M. Hayes, Clemens M.F. Dirven, Anke Dam, Edwin Verlind, Willemina M. Molenaar, Jan Jakob A. Mooij, Robert M.W. Hofstra, Charles H.C.M. Buys

Journal:

Brain Pathology

Year:

1999

Language:

english

File:

PDF, 84 KB

english, 1999

9

Inhibition of ROCK signaling pathway accelerates enteric neural crest cellâbased therapy after transplantation in a rat hypoganglionic model

Zhao, Yuying, Ge, Xin, Yu, Hui, Kuil, Laura E., Alves, Maria M., Tian, Donghao, Huang, Qiang, Chen, Xinlin, Hofstra, Robert M. W., Gao, Ya

Journal:

Neurogastroenterology & Motility

Year:

2020

File:

PDF, 3.23 MB

2020

10

Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22

Verheij, Joke B.G.M., Bouman, Katel�ne, van Lingen, Richard A., van Lookeren Campagne, Joannes G., Leegte, Beike, van der Veen, Anneke Y., Hofstra, Robert M.W., Buys, Charles H.C.M., van Essen, Anthon

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.32 MB

english, 1999

11

Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis

Ying Wu, Robert M.W. Hofstra, Hans Scheffer, André G. Uitterlinden, Erik Mullaart, Charles H.C.M. Buys, Jan Vijg

Journal:

Year:

1996

Language:

english

File:

PDF, 1.19 MB

english, 1996

12

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

Robert M.W. Hofstra, Ying Wu, Rein P. Stulp, Peter Elfferich, Jan Osinga, Saskia M. Maas, Liesbeth Siderius, Alice S. Brooks, Jenneke J. vd Ende, Vera M.R. Heydendael, René S.V.M. Severijnen, Klaas M.

Journal:

Year:

2000

Language:

english

File:

PDF, 379 KB

english, 2000

13

MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis

Ying Wu, Minna Nyström-Lahti, Jan Osinga, Maaike W. G. Looman, Päivi Peltomäki, Lauri A. Aaltonen, Albert de la Chapelle, Robert M. W. Hofstra, Charles H. C. M. Buys

Journal:

Genes, Chromosomes and Cancer

Year:

1997

Language:

english

File:

PDF, 233 KB

english, 1997

14

Investigation of the genes for RET and its ligand complex, GDNF/GFRα-1, in small cell lung carcinoma

Lois M. Mulligan, Tineke Timmer, Stacey M. Ivanchuk, Barbara G. Campling, Leah C. Young, Pamela H. Rabbitts, Vasi Sundaresan, Robert M. W. Hofstra, Charis Eng

Journal:

Genes, Chromosomes and Cancer

Year:

1998

Language:

english

File:

PDF, 82 KB

english, 1998

15

Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer

Ronit Shiri-Sverdlov, Peter Oefner, Limor Green, Ruth Gershoni Baruch, Teresa Wagner, Anna Kruglikova, Samario Haitchick, Robert M.W. Hofstra, Moshe Z. Papa, Inge Mulder, Shulamit Rizel, Revital Bruch

Journal:

Year:

2000

Language:

english

File:

PDF, 342 KB

english, 2000

16

Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer

Rolf Sijmons, Robert Hofstra, Harry Hollema, Rob Mensink, Annemieke van der Hout, Harald Hoekstra, Jan Kleibeuker, Willemina Molenaar, Juul Wijnen, Riccardo Fodde, Hans Vasen, Charles Buys

Journal:

Genes, Chromosomes and Cancer

Year:

2000

Language:

english

File:

PDF, 56 KB

english, 2000

17

New comprehensive denaturing-gradient-gel- electrophoresis assay for KRAS mutation detection applied to paraffin-embedded tumours

Vanessa M. Hayes, Jantine L. Westra, Edwin Verlind, Wim Bleeker, John T. Plukker, Robert M.W. Hofstra, Charles H.C.M. Buys

Journal:

Genes, Chromosomes and Cancer

Year:

2000

Language:

english

File:

PDF, 92 KB

english, 2000

18

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

Joke B.G.M. Verheij, Jürgen Kunze, Jan Osinga, Anthonie J. van Essen, Robert M.W. Hofstra

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 106 KB

english, 2002

19

Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?

Melissa A. Parisi, Raj P. Kapur, Ian Neilson, Robert M.W. Hofstra, Lynda W. Holloway, Ron C. Michaelis, Kathleen A. Leppig

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 189 KB

english, 2002

20

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

Anthonie J. van Essen, Inge M. Mulder, Pieter van der Vlies, Annemarie H. van der Hout, Charles H.C.M. Buys, Robert M.W. Hofstra, Johan T. den Dunnen

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 66 KB

english, 2003

21

Functional analyses of RET mutations in Chinese hirschsprung disease patients

Thomas Y.Y. Leon, Man-Ting So, Vincent C.H. Lui, Robert M.W. Hofstra, Paul K.H. Tam, Elly S.W. Ngan, Maria-Mercè Garcia-Barceló

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2012

Language:

english

File:

PDF, 504 KB

english, 2012

22

PMS2 involvement in patients suspected of Lynch syndrome

Renée C. Niessen, Jan H. Kleibeuker, Helga Westers, Paul O. J. Jager, Dennie Rozeveld, Krista K. Bos, Wytske Boersma-van Ek, Harry Hollema, Rolf H. Sijmons, Robert M. W. Hofstra

Journal:

Genes, Chromosomes and Cancer

Year:

2009

Language:

english

File:

PDF, 198 KB

english, 2009

23

Do microsatellite instability profiles really differ between colorectal and endometrial tumors?

Ana M. Ferreira, Helga Westers, Ying Wu, Renée C. Niessen, Maran Olderode-Berends, Tineke van der Sluis, Ate G. van der Zee, Harry Hollema, Jan H. Kleibeuker, Rolf H. Sijmons, Robert M. W. Hofstra

Journal:

Genes, Chromosomes and Cancer

Year:

2009

Language:

english

File:

PDF, 142 KB

english, 2009

24

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

Renée C. Niessen, Robert M. W. Hofstra, Helga Westers, Marjolijn J. L. Ligtenberg, Krista Kooi, Paul O. J. Jager, Marloes L. de Groote, Trijnie Dijkhuizen, Maran J. W. Olderode-Berends, Harry Hollema,

Journal:

Genes, Chromosomes and Cancer

Year:

2009

Language:

english

File:

PDF, 355 KB

english, 2009

25

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

Robert M.W. Hofstra, Inge M. Mulder, Rolf Vossen, Pia A. M. de Koning-Gans, Marian Kraak, Ieke B. Ginjaar, Annemarie H. van der Hout, Egbert Bakker, Charles H.C.M. Buys, Gert-Jan B. van Ommen, Anthoni

Journal:

Year:

2004

Language:

english

File:

PDF, 224 KB

english, 2004

26

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

Marc S. Greenblatt, Lawrence C. Brody, William D. Foulkes, Maurizio Genuardi, Robert M.W. Hofstra, Magali Olivier, Sharon E. Plon, Rolf H. Sijmons, Olga Sinilnikova, Amanda B. Spurdle

Journal:

Year:

2008

Language:

english

File:

PDF, 772 KB

english, 2008

27

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

Robert M.W. Hofstra, Amanda B. Spurdle, Diana Eccles, William D. Foulkes, Niels de Wind, Nicoline Hoogerbrugge, Frans B.L. Hogervorst

Journal:

Year:

2008

Language:

english

File:

PDF, 209 KB

english, 2008

28

Assessment of functional effects of unclassified genetic variants

Fergus J. Couch, Lene Juel Rasmussen, Robert Hofstra, Alvaro N.A. Monteiro, Marc S. Greenblatt, Niels de Wind

Journal:

Year:

2008

Language:

english

File:

PDF, 355 KB

english, 2008

29

A database to support the interpretation of human mismatch repair gene variants

Jianghua Ou, Renée C. Niessen, Jan Vonk, Helga Westers, Robert M.W. Hofstra, Rolf H. Sijmons

Journal:

Year:

2008

Language:

english

File:

PDF, 292 KB

english, 2008

30

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome–Hirschsprung disease association

Stacey Arnold, Anna Pelet, Jeanne Amiel, Salud Borrego, Robert Hofstra, Paul Tam, Isabella Ceccherini, Stanislas Lyonnet, Stephanie Sherman, Aravinda Chakravarti

Journal:

Year:

2009

Language:

english

File:

PDF, 274 KB

english, 2009

31

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

Paul A. van der Zwaag, Jan D.H. Jongbloed, Maarten P. van den Berg, Jasper J. van der Smagt, Roselie Jongbloed, Hennie Bikker, Robert M.W. Hofstra, J. Peter van Tintelen

Journal:

Year:

2009

Language:

english

File:

PDF, 271 KB

english, 2009

32

An updated and upgraded L1CAM mutation database

Yvonne J. Vos, Robert M.W. Hofstra

Journal:

Year:

2010

Language:

english

File:

PDF, 246 KB

english, 2010

33

Cell-free assay breakthrough for MLH1 variants

Robert M.W. Hofstra, Rolf H. Sijmons

Journal:

Year:

2010

Language:

english

File:

PDF, 69 KB

english, 2010

34

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

Annemarie H. van der Hout, Edwin Verlind, Frits A. Beemer, Charles H.C.M. Buys, Robert M.W. Hofstra, Hans Scheffer

Journal:

Year:

2002

Language:

english

File:

PDF, 146 KB

english, 2002

35

Threshold voltage trends in ZnS : Mn-based alternating-current thin-film electroluminescent devices: role of native defects

Alex N. Krasnov, Robert C. Bajcar, Peter G. Hofstra

Journal:

Journal of Crystal Growth

Year:

1998

Language:

english

File:

PDF, 125 KB

english, 1998

36

A noninvasive method to estimate wall shear rate using ultrasound

Peter J. Brands, Arnold P.G. Hoeks, Leo Hofstra, Robert S. Reneman

Journal:

Ultrasound in Medicine & Biology

Year:

1995

Language:

english

File:

PDF, 1.48 MB

english, 1995

37

InSiGHT leads in the implementation of the Human Variome Project

Finlay Macrae, Gabriela Moslein, Richard Cotton, Rolf Sijmons, Johan den Dunnen, Michael Woods, Sean Tavtigian, Mark Jenkins, Robert Hofstra, Robert Haile

Journal:

Hereditary Cancer in Clinical Practice

Year:

2011

Language:

english

File:

PDF, 173 KB

english, 2011

38

Ordering of markers in the pericentromeric region of chromosome 10

Robert M. W. Hofstra, Tineke Stelwagen, Barbara Pasini, Anneke Y. Veen, Bruce A. J. Ponder, Yusuke Nakamura, Giovanni Romeo, Charles H. C. M. Buys

Journal:

Year:

1995

Language:

english

File:

PDF, 212 KB

english, 1995

39

Mapping of a susceptibility gene for multiple sclerosis to the 51

Maartje Boon, Ilja M. Nolte, Marcel Bruinenberg, Geert T. Spijker, Peter Terpstra, John Raelson, Jacques De Keyser, Cees P. Zwanikken, Miriam Hulsbeek, Robert M. Hofstra, Charles H. Buys, Gerard J. Me

Journal:

Year:

2001

Language:

english

File:

PDF, 290 KB

english, 2001

40

A novelMSH2germline mutation in a Druze HNPCC family

Jamal Zidan, Renée C. Niessen, Yael Laitman, Dennie Rozeveld, Robert M. W. Hofstra, Eitan Friedman

Journal:

Familial Cancer

Year:

2008

Language:

english

File:

PDF, 213 KB

english, 2008

41

Screening for germlineDND1mutations in testicular cancer patients

Rolf H. Sijmons, Yvonne J. Vos, Johanna C. Herkert, Krista K. Bos, Martijn F. Lutke Holzik, Josette E. H. M. Hoekstra-Weebers, Robert M. W. Hofstra, Harald J. Hoekstra

Journal:

Familial Cancer

Year:

2010

Language:

english

File:

PDF, 185 KB

english, 2010

42

RET Mutation Screening in Familial Cutaneous Lichen Amyloidosis and in Skin Amyloidosis Associated With Multiple Endocrine Neoplasia.

Hofstra, Robert M. W., Sijmons, Rolf H., Stelwagen, Tineke, Stulp, Rein P., Kousseff, Boris G., Lips, Cornelis J. M., Steijlen, Peter M., van Voorst Vader, Pieter C., Buys, Charles H. C. M.

Journal:

The Journal of Investigative Dermatology

Year:

1996

File:

PDF, 1.47 MB

1996

43

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

Hofstra, Robert M. W., Landsvater, Rudy M., Ceccherini, Isabella, Stulp, Rein P., Stelwagen, Tineke, Luo, Yin, Pasini, Barbara, Hoppener, Jo W. M., van Amstel, Hans Kristian Ploos, Romeo, Giovanni

Journal:

Year:

1994

File:

PDF, 244 KB

1994

44

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

Griseri, Paola, Vos, Yvonne, Giorda, Roberto, Gimelli, Stefania, Beri, Silvana, Santamaria, Giuseppe, Mognato, Guendalina, Hofstra, Robert M W, Gimelli, Giorgio, Ceccherini, Isabella

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 293 KB

english, 2008

45

MSI-L Gastric Carcinomas Share the hMLH1 Methylation Status of MSI-H Carcinomas but Not Their Clinicopathological Profile

Pinto, Mafalda, Oliveira, Carla, Machado, José Carlos, Cirnes, Luis, Tavares, João, Carneiro, Fátima, Hamelin, Richard, Hofstra, Robert, Seruca, Raquel, Sobrinho-Simões, Manuel

Journal:

Laboratory Investigation

Year:

2000

Language:

english

File:

PDF, 498 KB

english, 2000

46

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

47

Segregation at three loci explains familial and population risk in Hirschsprung disease

Gabriel, Stacey Bolk, Salomon, Rémi, Pelet, Anna, Angrist, Misha, Amiel, Jeanne, Fornage, Myriam, Attié-Bitach, Tania, Olson, Jane M., Hofstra, Robert, Buys, Charles, Steffann, Julie, Munnich, Arnold,

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 939 KB

english, 2002

48

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

Griseri, Paola, Sancandi, Monica, Patrone, Giovanna, Bocciardi, Renata, Hofstra, Robert, Ravazzolo, Roberto, Devoto, Marcella, Romeo, Giovanni, Ceccherini, Isabella

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 158 KB

english, 2000

49

MEN2A-RET-induced cellular transformation by activation of STAT3

Schuringa, Jan Jacob, Wojtachnio, Katarzyna, Hagens, Werner, Vellenga, Edo, Buys, Charles HCM, Hofstra, Robert, Kruijer, Wiebe

Journal:

Year:

2001

Language:

english

File:

PDF, 277 KB

english, 2001

50

Concomitant RASSF1A hypermethylation and KRAS/BRAF mutations occur preferentially in MSI sporadic colorectal cancer

Oliveira, Carla, Velho, Sérgia, Domingo, Enric, Preto, Ana, Hofstra, Robert M W, Hamelin, Richard, Yamamoto, Hiroyuki, Seruca, Raquel, Schwartz, Simo

Journal:

Year:

2005

Language:

english

File:

PDF, 175 KB

english, 2005