Ineke J.A.M. van der Burgt: search on Z-Library

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1

Genetic heterogeneity in Noonan syndrome: Evidence for an autosomal recessive form

Ineke van der Burgt, Han Brunner

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 201 KB

english, 2000

2

PORCN mutations in focal dermal hypoplasia: coping with lethality

Dorothea Bornholdt, Frank Oeffner, Arne König, Rudolf Happle, Yasemin Alanay, Jeffrey Ascherman, Paul J. Benke, María del Carmen Boente, Ineke van der Burgt, Nicolas Chassaing, Ian Ellis, Christina Ra

Journal:

Year:

2009

Language:

english

File:

PDF, 232 KB

english, 2009

3

Noonan syndrome

Ineke van der Burgt

Journal:

Orphanet Journal of Rare Diseases

Year:

2007

Language:

english

File:

PDF, 209 KB

english, 2007

4

PORCN mutations in focal dermal hypoplasia: coping with lethality

Dorothea Bornholdt, Frank Oeffner, Arne König, Rudolf Happle, Yasemin Alanay, Jeffrey Ascherman, Paul J. Benke, María del Carmen Boente, Ineke van der Burgt, Nicolas Chassaing, Ian Ellis, Christina Ra

Journal:

Year:

2009

Language:

english

File:

PDF, 348 KB

english, 2009

5

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11

van Nierop, Josephine W.I., van Trier, Dorothée C., van der Burgt, Ineke, Draaisma, Jos M.T., Mylanus, Emmanuel A.M., Snik, Ad F., Admiraal, Ronald J.C., Kunst, Henricus P.M.

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2017

Language:

english

File:

PDF, 536 KB

english, 2017

6

X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

Yntema, Helger G., van den Helm, Bellinda, Knoers, Nine V.A.M., Smits, Arie P.T., van Roosmalen, Tanja, Smeets, Dominique F.C.M., Mariman, Edwin C.M., van der Burgt, Ineke, van Bokhoven, Hans, Ropers,

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 102 KB

english, 1999

7

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

Jongmans, Marjolijn C J, van der Burgt, Ineke, Hoogerbrugge, Peter M, Noordam, Kees, Yntema, Helger G, Nillesen, Willy M, Kuiper, Roland P, Ligtenberg, Marjolijn JL, van Kessel, Ad Geurts, van Krieken

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 279 KB

english, 2011

8

Motor performance in children with Noonan syndrome

Croonen, Ellen A., Essink, Marlou, van der Burgt, Ineke, Draaisma, Jos M., Noordam, Cees, Nijhuis-van der Sanden, Maria W. G.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 601 KB

english, 2017

9

Further delineation of the branchio-oculo-facial syndrome

Angela E. Lin, Robert J. Gorlin, Iosif W. Lurie, Han G. Brunner, Ineke van der Burgt, Irena V. Naumchik, Natalja V. Rumyantseva, Sabine Stengel-Rutkowski, Kenneth Rosenbaum, Peter Meinecke, Dietmar Mu

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1.73 MB

english, 1995

10

Clinical and molecular studies in a large Dutch family with Noonan syndrome

Ineke Van Der Burgt, Ed Berends, Ed Lommen, Sylvia Van Beersum, Ben Hamel, Edwin Mariman

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 536 KB

english, 1994

11

Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report

Mutmainah, Iffa, Nillesen, Willy, Mundhofir, Farmaditya, Winarni, Tri, Van der Burgt, Ineke, Yntema, Helger, Faradz, Sultana

Journal:

Paediatrica Indonesiana

Year:

2016

File:

PDF, 477 KB

2016

12

Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report

Mutmainah, Iffa, Nillesen, Willy, Mundhofir, Farmaditya, Winarni, Tri, Van der Burgt, Ineke, Yntema, Helger, Faradz, Sultana

Journal:

Paediatrica Indonesiana

Year:

2016

Language:

english

File:

PDF, 477 KB

english, 2016

13

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

Mundhofir, Farmaditya E. P., Yntema, Helger G., van der Burgt, Ineke, Hamel, Ben C. J., Faradz, Sultana M. H., van Bon, Bregje W. M.

Journal:

Case Reports in Genetics

Year:

2012

Language:

english

File:

PDF, 866 KB

english, 2012

14

Ocular Manifestations of Noonan Syndrome

van Trier, Dorothée C., Vos, Anna M.C., Draaijer, Renske W., van der Burgt, Ineke, Draaisma, Jos M.Th., Cruysberg, Johannes R.M.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.57 MB

english, 2016

15

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

Stuurman, Kyra E, Joosten, Marieke, van der Burgt, Ineke, Elting, Mariet, Yntema, Helger G, Meijers-Heijboer, Hanne, Rinne, Tuula

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 444 KB

english, 2019

16

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism

Sihombing, Nydia Rena Benita, Winarni, Tri Indah, van Bokhoven, Hans, van der Burgt, Ineke, de Leeuw, Nicole, Faradz, Sultana M. H.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 3.64 MB

2020

17

BRIT1/MCPH1 links chromatin remodelling to DNA damage response

Peng, Guang, Yim, Eun-Kyoung, Dai, Hui, Jackson, Andrew P., Burgt, Ineke van der, Pan, Mei-Ren, Hu, Ruozhen, Li, Kaiyi, Lin, Shiaw-Yih

Journal:

Nature Cell Biology

Year:

2009

Language:

english

File:

PDF, 3.36 MB

english, 2009

18

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

Jamieson, C. Ruth, van der Burgt, Ineke, Brady, Angela F., van Reen, Margo, Elsawi, Madiha M., Hol, Frans, Jeffery, Steve, Patton, Michael A., Mariman, Edwin

Journal:

Nature Genetics

Year:

1994

File:

PDF, 443 KB

1994

19

10.1038/ng772

Tartaglia, Marco, Mehler, Ernest L., Goldberg, Rosalie, Zampino, Giuseppe, Brunner, Han G., Kremer, Hannie, van der Burgt, Ineke, Crosby, Andrew H., Ion, Andra, Jeffery, Steve, Kalidas, Kamini, Patton

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 1.20 MB

english, 2001

20

Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping

Cisca Wijmenga, Lambert P. W.J. van den Heuvel, Eric Strengman, Jan A.F.M. Luyten, Ineke J.A.M. van der Burgt, Ronald de Groot, Dominique F.C.M. Smeets, Jos M.T. Draaisma, Jacques J. van Dongen, Ronne

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.14 MB

english, 1998

21

Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome

Marco Tartaglia, Viviana Cordeddu, Hong Chang, Adam Shaw, Kamini Kalidas, Andrew Crosby, Michael A. Patton, Mariella Sorcini, Ineke van der Burgt, Steve Jeffery, Bruce D. Gelb

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 94 KB

english, 2004

22

Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome

de Boer, Lonneke, Kant, Sarina G., Karperien, Marcel, van Beers, Lotte, Tjon, Jennifer, Vink, Geraldine R., van Tol, Dewy, Dauwerse, Hans, le Cessie, Saskia, Beemer, Frits A., van der Burgt, Ineke, Ha

Journal:

Hormone Research

Year:

2004

Language:

english

File:

PDF, 248 KB

english, 2004

23

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

Stuurman, Kyra E, Joosten, Marieke, van der Burgt, Ineke, Elting, Mariet, Yntema, Helger G, Meijers-Heijboer, Hanne, Rinne, Tuula

Journal:

Journal of Medical Genetics

Year:

2019

File:

PDF, 444 KB

2019

24

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Polinkovsky, Alexander, Robin, Nathaniel H., Thomas, J. Terrig, Irons, Mira, Lynn, Audrey, Goodman, Frances R., Reardon, William, Kant, Sarina G., Brunner, Han G., van der Burgt, Ineke

Journal:

Nature Genetics

Year:

1997

File:

PDF, 404 KB

1997

25

Absence ofPTPN11mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

Ion, Andra, Tartaglia, Marco, Song, Xiaoling, Kalidas, Kamini, van der Burgt, Ineke, Shaw, Adam, Ming, Jeffrey, Zampino, Giuseppe, Zackai, Elaine, Dean, John

Journal:

Year:

2002

Language:

english

File:

PDF, 205 KB

english, 2002

26

Corrigendum: Germline KRAS mutations cause Noonan syndrome

Schubbert, Suzanne, Zenker, Martin, Rowe, Sara L, Böll, Silke, Klein, Cornelia, Bollag, Gideon, van der Burgt, Ineke, Musante, Luciana, Kalscheuer, Vera, Wehner, Lars-Erik

Journal:

Nature Genetics

Year:

2006

File:

PDF, 45 KB

2006

27

Germline KRAS mutations cause Noonan syndrome

Schubbert, Suzanne, Zenker, Martin, Rowe, Sara L, Böll, Silke, Klein, Cornelia, Bollag, Gideon, van der Burgt, Ineke, Musante, Luciana, Kalscheuer, Vera, Wehner, Lars-Erik

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 251 KB

english, 2006

28

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Marco Tartaglia, Simone Martinelli, Lorenzo Stella, Gianfranco Bocchinfuso, Elisabetta Flex, Viviana Cordeddu, Giuseppe Zampino, Ineke van der Burgt, Antonio Palleschi, Tamara C. Petrucci, Mariella So

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 769 KB

english, 2006

29

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives

Croonen, Ellen A., Harmsen, Mirjam, Van der Burgt, Ineke, Draaisma, Jos M., Noordam, Kees, Essink, Marlou, Nijhuis-van der Sanden, Maria W. G.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 102 KB

english, 2016

30

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients

van Trier, Dorothée C., van der Burgt, Ineke, Draaijer, Renske W., Cruysberg, Johannes R. M., Noordam, Cees, Draaisma, Jos M.

Journal:

European Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 396 KB

english, 2018

31

First-year growth in children with Noonan syndrome: Associated with feeding problems?

Croonen, Ellen A., Draaisma, Jos M. T., van der Burgt, Ineke, Roeleveld, Nel, Noordam, Cees

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 673 KB

english, 2018

32

Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: Clinical report and review

Bregje W.M. van Bon, David A. Koolen, Rolph Pfundt, Ineke van der Burgt, Nicole de Leeuw, Bert B.A. de Vries

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 168 KB

english, 2008

33

Genetics and Variation in Phenotype in Noonan Syndrome

Jongmans, Marjolijn, Otten, Barto, Noordam, Kees, van der Burgt, Ineke

Journal:

Hormone Research

Year:

2004

Language:

english

File:

PDF, 98 KB

english, 2004

34

Detection of Chromosome Aneuploidies in Chorionic Villus Samples by Multiplex Ligation-Dependent Probe Amplification

Kooper, Angelique J.A., Faas, Brigitte H.W., Feuth, Ton, Creemers, Johan W.T., Zondervan, Hans H., Boekkooi, Peter F., Quartero, Rik W.P., Rijnders, Robbert J.P., van der Burgt, Ineke, van Kessel, Ad

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 303 KB

english, 2009

35

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome

Croonen, Ellen A., Yntema, Helger G., van Minkelen, Rick, van den Ouweland, Ans M.W., van der Burgt, Ineke

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 194 KB

english, 2012

36

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

Marjolijn Jongmans, Erik A. Sistermans, Alwin Rikken, Willy M. Nillesen, Rienk Tamminga, Michael Patton, Esther M. Maier, Marco Tartaglia, Kees Noordam, Ineke van der Burgt

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 130 KB

english, 2005

37

Electrocardiography in Noonan syndrome PTPN11 gene mutation—phenotype characterization

Ellen A. Croonen, Ineke van der Burgt, Livia Kapusta, Jos M. Th. Draaisma

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 114 KB

english, 2008

38

Noonan syndrome: Psychological and psychiatric aspects

Willem Verhoeven, Ellen Wingbermühle, Jos Egger, Ineke Van der Burgt, Siegfried Tuinier

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 95 KB

english, 2008

39

Noonan syndrome, the SOS1 gene, and embryonal rhabdomyosarcoma

Marjolijn C.J. Jongmans, Peter M. Hoogerbrugge, Linda Hilkens, Uta Flucke, Ineke van der Burgt, Kees Noordam, Martina Ruiterkamp-Versteeg, Helger G. Yntema, Willy M. Nillesen, Marjolijn J.L. Ligtenber

Journal:

Cancer Genetics and Cytogenetics

Year:

2010

Language:

english

File:

PDF, 38 KB

english, 2010

40

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Marco Tartaglia, Kamini Kalidas, Adam Shaw, Xiaoling Song, Dan L. Musat, Ineke van der Burgt, Han G. Brunner, Débora R. Bertola, Andrew Crosby, Andra Ion, Raju S. Kucherlapati, Steve Jeffery, Michael

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 227 KB

english, 2002

41

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: Description of seven patients and review of the literature

Ineke Van Der Burgt, Asgeir Haraldsson, Jan C. Oosterwijk, Anthonie J. van Essen, Corry Weemaes, Ben Hamel

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 937 KB

english, 1991

42

Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G > A(Arg366His) mutation

Timothy Antonius, Bregje van Bon, Alex Eggink, Ineke van der Burgt, Kees Noordam, Arno van Heijst

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 75 KB

english, 2008

43

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Angelique JA Kooper, Jacqueline JPM Pieters, Brigitte HW Faas, Lies H Hoefsloot, Ineke van der Burgt, Hans A Zondervan, Arie PT Smits

Journal:

Molecular Cytogenetics

Year:

2012

Language:

english

File:

PDF, 177 KB

english, 2012

44

Klinische Genetica

Katelijne Bouman, Ineke Van der Burgt, Margreet Ausems

Journal:

Year:

2013

Language:

dutch

File:

PDF, 884 KB

dutch, 2013

45

Neuropsychological and Behavioral Aspects of Noonan Syndrome

Wingbermuehle, Ellen, Egger, Jos, van der Burgt, Ineke, Verhoeven, Willem

Journal:

Hormone Research

Year:

2009

Language:

english

File:

PDF, 131 KB

english, 2009

46

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation

van Trier, Dorothée C., Rinne, Tuula, Noordam, Kees, Draaisma, Jos M., van der Burgt, Ineke

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 420 KB

english, 2017

47

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

Marjolijn C. J. Jongmans, Peter M. Hoogerbrugge, Linda Hilkens, Uta Flucke, Ineke van der Burgt, Kees Noordam, Martina Ruiterkamp-Versteeg, Helger G. Yntema, Willy M. Nillesen, Marjolijn J. L. Ligtenb

Journal:

Genes, Chromosomes and Cancer

Year:

2010

Language:

english

File:

PDF, 336 KB

english, 2010

48

Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression

Ineke van der Burgt, Geert Thoonen, Natasja Roosenboom, Claire Assman-Hulsmans, Fons Gabreels, Barto Otten, Han G. Brunner

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 63 KB

english, 1999

49

Multiplex Ligation-dependent Probe Amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells

Angelique J. A. Kooper, Brigitte H. W. Faas, Ellen Kater-Baats, Ton Feuth, Jasper C. J. A. Janssen, Ineke van der Burgt, Fred K. Lotgering, Ad Geurts van Kessel, Arie P. T. Smits

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 167 KB

english, 2008

50

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

Sascha Vermeer, David A Koolen, Gepke Visser, Hein J L Brackel, Ineke Van Der Burgt, Nicole De Leeuw, Michèl A A P Willemsen, Erik A Sistermans, Rolph Pfundt, Bert B A De Vries

Journal:

Developmental Medicine & Child Neurology

Year:

2007

Language:

english

File:

PDF, 442 KB

english, 2007

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