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Annelies de Klein

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Tyler F Beck; Terry K Bertin; Sunju Choi; Annelies de Klein; Hannie Douben; Monica J Justice; Bum Jun Kim; Brendan Lee; Pragna I Patel; Oleg A Shchelochkov; David Wayne Stockton; Dick Tibboel; Yolande van Bever; Danielle Veenma; Zhiyin Yu; Hitisha P Zaveri; Daryl A Scott
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
E Brosens; H Eussen; H Ijsselstijn; Daryl A Scott; Dick Tibboel; Y van Bever; R M van der Helm; R M H Wijnen; H P Zaveri; Annelies de Klein
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.
Joyce M G Florisson; Jean Pierre Frijns; Jeannette A M Hoogeboom; Linda Koster; Irene M J Mathijssen; Ben A Oostra; Pino J Poddighe; SM Swagemakers; Peter J van der Spek; Annelies de Klein; Bert B A de Vries; Belinda Dumee; Bert Eussen; Annemieke J M H Verkerk
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.

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2013: Tyler F Beck; Terry K Bertin; Sunju Choi; Annelies de Klein; Hannie Douben; Monica J Justice; Bum Jun Kim; Brendan Lee; Pragna I Patel; Oleg A Shchelochkov; David Wayne Stockton; Dick Tibboel; Yolande van Bever; Danielle Veenma; Zhiyin Yu; Hitisha P Zaveri; Daryl A Scott
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Human molecular genetics 2013;22(5):1026-38.
2013: E Brosens; H Eussen; H Ijsselstijn; Daryl A Scott; Dick Tibboel; Y van Bever; R M van der Helm; R M H Wijnen; H P Zaveri; Annelies de Klein
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.
Molecular syndromology 2013;4(1-2):20-6.
2013: Joyce M G Florisson; Jean Pierre Frijns; Jeannette A M Hoogeboom; Linda Koster; Irene M J Mathijssen; Ben A Oostra; Pino J Poddighe; SM Swagemakers; Peter J van der Spek; Annelies de Klein; Bert B A de Vries; Belinda Dumee; Bert Eussen; Annemieke J M H Verkerk
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
American journal of medical genetics. Part A 2013;161A(2):244-53.
2013: Przemyslaw Szafranski; Dick Tibboel; David P Witte; Ou Zhishuo; Susan Arbuckle; Erwin Brosens; Bo Chen; Maya Chopra; Annelies de Klein; Avinash V Dharmadhikari; Piotr Dittwald; Richard Fisher; Sixto F Guiang; Priyatansh Gurha; Russel Hirsch; Virginia A Hustead; Jose Jessurun; Katarzyna E Kolodziejska; Claire Langston; Tadeusz Majewski; Girvan Malcolm; Isabelle Maystadt; K Naga Mohan; Richard E Person; Gregory Peters; Jason Pinner; Neil Sebire; Partha Sen; Pawel Stankiewicz
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Genome research 2013;23(1):23-33.
2012: Benjamin D Solomon; Dick Tibboel; Kelly A Bear; Annelies de Klein; Virginia E Kimonis; Heiko Reutter; Daryl A Scott; Charles Shaw-Smith; Philip F Giampietro
Clinical geneticists' views of VACTERL/VATER association.
American journal of medical genetics. Part A 2012;158A(12):3087-100.
2012: I Sluiter; R van Loenhout; D Veenma; Annelies de Klein; Richard Keijzer; M Post; Robbert Rottier; Dick Tibboel
Etiological and pathogenic factors in congenital diaphragmatic hernia.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie 2012;22(5):345-54.
2012: Marieke Roemeling-van Rhijn; Willem Weimar; Carla C Baan; Michiel G H Betjes; Annelies de Klein; Frank Dor; Hannie Douben; Jan N M Ijzermans; Sander S Korevaar; Fane K F Mensah; Marlies E J Reinders; Martin J Hoogduijn
Mesenchymal stem cells derived from adipose tissue are not affected by renal disease.
Kidney international 2012;82(7):748-58.
2012: Margaret J Wat; Zhiyin Yu; Dick Tibboel; Danielle Veenma; Jeanette J Wat; Tyler F Beck; Yuqing Chen; Annelies de Klein; Mary Dickinson; Monica Garcia; Andrés Hernández-García; Ashley M Holder; Kevin P Lally; Brendan Lee; Carrie A Mohila; Daryl A Scott
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
Human molecular genetics 2012;21(18):4115-25.
2012: Annelies de Klein; Anna E Koopmans; Emine Kilic
Multicolor FISH with improved sensitivity and specificity in the diagnosis of malignant melanoma.
Expert review of molecular diagnostics 2012;12(7):683-5.
2012: Bart J B Bliek; Annelies de Klein; Coskun Guzel; Jan Lindemans; Theo M Luider; Eric A P Steegers; Christoph Stingl; Regine P M Steegers-Theunissen
Peptide fingerprinting of folate-responsive proteins in human B lymphoblasts and orofacial clefting.
European journal of clinical investigation 2012;42(7):738-50.
2012: Andres Hernandez-Garcia; Seema R Lalani; Brendan Lee; Allison Mayle; Maria Namwanje; Maria Blazo; Erwin Brosens; Elisabeth M de Jong; Annelies de Klein; Caraciolo J Fernandes; Dick Tibboel; Zhiyin Yu; Hitisha P Zaveri; Daryl A Scott
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
American journal of medical genetics. Part A 2012;158A(7):1785-7.
2012: Thomas van den Bosch; Robert M Verdijk; Annelies de Klein; Nicole C Naus; Dion Paridaens; Jolanda Vaarwater; Jackelien G M van Beek; Emine Kiliç
Higher percentage of FISH-determined monosomy 3 and 8q amplification in uveal melanoma cells relate to poor patient prognosis.
Investigative ophthalmology & visual science 2012;53(6):2668-74.
2012: Dora Janeth Fonseca; Yenny Milena Gomez; Diana Angel; Annelies de Klein; Hannie Douben; Carlos Fernando Prada; Carlos Martin Restrepo; Fernando Rivadeneira; Luz Miriam Siza; Paul Laissue
A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin.
American journal of medical genetics. Part A 2012;158A(3):689-93.
2012: Danielle Veenma; Marjan Boter; Erwin Brosens; Titia Cohen-Overbeek; Elisabeth de Jong; Hannie Douben; Hubertus Eussen; Connie Meeussen; Dick Tibboel; Cees van de Ven; Annelies de Klein
Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.
European journal of human genetics : EJHG 2012;20(3):298-304.
2011: Robert M Verdijk; Cornelia M Mooy; Nicole C Naus; Dion Paridaens; Thomas van den Bosch; Annelies de Klein
Histopathologic, immunohistochemical, ultrastructural, and cytogenetic analysis of oncocytic uveal melanoma.
Archives of ophthalmology 2011;129(11):1501-2.
2011: Margaret J Wat; Danielle Veenma; Jacob Hogue; Ashley M Holder; Zhiyin Yu; Jeanette J Wat; Neil Hanchard; Oleg A Shchelochkov; Caraciolo J Fernandes; Anthony Johnson; Kevin P Lally; Anne Slavotinek; Olivier Danhaive; Thomas Schaible; Sau Wai Cheung; Katherine A Rauen; Vijay S Tonk; Dick Tibboel; Annelies de Klein; Daryl A Scott
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
Journal of medical genetics 2011;48(5):299-307.
2011: H W Mensink; J Vaarwater; R J W de Keizer; D de Wolff-Rouendaal; C M Mooy; Annelies de Klein; Dion Paridaens
Chromosomal aberrations in iris melanomas.
The British journal of ophthalmology 2011;95(3):424-8.
2011: Delila Gasi; Hetty van der Korput; Hannie C Douben; Annelies de Klein; Corrina M de Ridder; Wytske M Van Weerden; Jan Trapman
Overexpression of full-length ETV1 transcripts in clinical prostate cancer due to gene translocation.
PloS one 2011;6(1):e16332.
2010: Juliane Tautz; Danielle Veenma; Bert Eussen; Linda Joosen; Pino Poddighe; Dick Tibboel; Annelies de Klein; Thomas Schaible
Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome.
American journal of medical genetics. Part A 2010;152A(11):2891-4.
2010: Elisabeth M de Jong; Hannie Douben; Bert H J Eussen; Janine F Felix; Marja W Wessels; Pino J Poddighe; Peter Nikkels; Ronald R de Krijger; Dick Tibboel; Annelies de Klein
5q11.2 deletion in a patient with tracheal agenesis.
European journal of human genetics : EJHG 2010;18(11):1265-8.
2010: Leonardus W J E Beurskens; Dick Tibboel; Jan Lindemans; Johannes J Duvekot; Titia E Cohen-Overbeek; Danielle C M Veenma; Annelies de Klein; John J Greer; Régine P M Steegers-Theunissen
Retinol status of newborn infants is associated with congenital diaphragmatic hernia.
Pediatrics 2010;126(4):712-20.
2010: Annelies de Klein; Dick Tibboel
Genetics.
Seminars in pediatric surgery 2010;19(3):234-9.
2010: D C M Veenma; HJ Eussen; L C P Govaerts; S W K de Kort; Roelof J Odink; Cokkie H Wouters; Anita C S Hokken-Koelega; Annelies de Klein
Phenotype-genotype correlation in a familial IGF1R microdeletion case.
Journal of medical genetics 2010;47(7):492-8.
2010: Annemieke J M H Verkerk; Robert Schot; Laura van Waterschoot; Hannie Douben; Pino J Poddighe; Maarten H Lequin; Linda S de Vries; Paulien Terhal; Johanne M D Hahnemann; I F M de Coo; Marie-Claire Y de Wit; Leontien S Wafelman; Livia Garavelli; William B Dobyns; Peter van der Spek; Annelies de Klein; Grazia M S Mancini
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
American journal of medical genetics. Part A 2010;152A(6):1488-97.
2010: Elisabeth M de Jong; Janine F Felix; Annelies de Klein; Dick Tibboel
Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".
Current gastroenterology reports 2010;12(3):215-22.
2010: Barbara D'haene; Jan Hellemans; Marguerita Craen; Jean De Schepper; Koen Devriendt; Jean-Pierre Fryns; Kathelijn Keymolen; Eveline Debals; Annelies de Klein; Elisabeth M de Jong; Karin Segers; Anne De Paepe; Geert Mortier; Jo Vandesompele; Elfride De Baere
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.
The Journal of clinical endocrinology and metabolism 2010;95(6):3010-8.
2010: Natascha N T Goemaere; Hannie Douben; Diane Van Opstal; Cokkie Wouters; Dick Tibboel; Ronald R de Krijger; Annelies de Klein
The use of comparative genomic hybridization and fluorescent in situ hybridization in postmortem pathology investigation of congenital malformations.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2010;13(2):85-94.
2010: Danielle Veenma; Niels Beurskens; Hannie Douben; Bert H J Eussen; Petra Noomen; Lutgarde Govaerts; Els Grijseels; Maarten Lequin; Ronald R de Krijger; Dick Tibboel; Annelies de Klein; Dian Van Opstal
Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient.
PloS one 2010;5(12):e15348.
2010: Abraham J Valkenburg; Monique van Dijk; Annelies de Klein; John N van den Anker; Dick Tibboel
Pain management in intellectually disabled children: Assessment, treatment, and translational research.
Developmental disabilities research reviews 2010;16(3):248-57.
2010: Thomas van den Bosch; Emine Kilic; Dion Paridaens; Annelies de Klein
Genetics of uveal melanoma and cutaneous melanoma: two of a kind?
Dermatology research and practice 2010;2010():360136.
2010: Lars T van der Veken; Marianne Mj Dieleman; Hannie Douben; Judith C van de Brug; Raoul van de Graaf; A Jeannette M Hoogeboom; Pino J Poddighe; Annelies de Klein
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies.
Molecular cytogenetics 2010;3():13.
2009: Merel Klaassens; Annelies de Klein; Dick Tibboel
The etiology of congenital diaphragmatic hernia: still largely unknown?
European journal of medical genetics 2009;52(5):281-6.
2009: Janine F Felix; Elisabeth M de Jong; Claudine P Torfs; Annelies de Klein; Robbert Rottier; Dick Tibboel
Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: an overview of the current concepts.
Birth defects research. Part A, Clinical and molecular teratology 2009;85(9):747-54.
2009: Hanneke W Mensink; Jolanda Vaarwater; Emine Kiliç; Nicole C Naus; Neeltje Mooy; Gre Luyten; Hennie T Brüggenwirth; Dion Paridaens; Annelies de Klein
Chromosome 3 intratumor heterogeneity in uveal melanoma.
Investigative ophthalmology & visual science 2009;50(2):500-4.
2009: Elisabeth M Lodder; Bert H J Eussen; Daniëlla A C M van Hassel; A J M Hoogeboom; Pino J Poddighe; J Henk Coert; Ben A Oostra; Annelies de Klein; Esther de Graaff
Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2009;17(6):737-44.
2008: Mariam Kouch-el Filali; Emine Kilic; Marleen Melis; Annelies de Klein; Marion De Jong; Gregorius P M Luyten
Expression of the SST receptor 2 in uveal melanoma is not a prognostic marker.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2008;246(11):1585-92.
2008: Magda A Meester-Smoor; Marjolein J F W Janssen; Gerard C Grosveld; Annelies de Klein; Wilfred F J van Ijcken; Hannie Douben; Ellen C Zwarthoff
MN1 affects expression of genes involved in hematopoiesis and can enhance as well as inhibit RAR/RXR-induced gene expression.
Carcinogenesis 2008;29(10):2025-34.
2008: walter van gils; Elisabeth M Lodder; Hanneke W Mensink; Emine Kiliç; Nicole C Naus; Hennie T Brüggenwirth; Wilfred van Ijcken; Dion Paridaens; Gregorius P M Luyten; Annelies de Klein
Gene expression profiling in uveal melanoma: two regions on 3p related to prognosis.
Investigative ophthalmology & visual science 2008;49(10):4254-62.
2008: Bart J B Bliek; Régine P M Steegers-Theunissen; Leen J Blok; Lindy A M Santegoets; Jan Lindemans; Ben A Oostra; Eric A P Steegers; Annelies de Klein
Genome-wide pathway analysis of folate-responsive genes to unravel the pathogenesis of orofacial clefting in man.
Birth defects research. Part A, Clinical and molecular teratology 2008;82(9):627-35.
2008: Lars Guelen; Ludo Pagie; Emilie Brasset; Wouter Meuleman; Marius B Faza; Wendy Talhout; Bert H Eussen; Annelies de Klein; Lodewyk F A Wessels; Wouter de Laat; Bas van Steensel
Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions.
Nature 2008;453(7197):948-51.
2008: Emine Kilic; Hennie T Brüggenwirth; Marit Meier; Nicole C Naus; Berna Beverloo; Jules P Meijerink; Gre P Luyten; Annelies de Klein
Increased expression of p73Deltaex2 transcript in uveal melanoma with loss of chromosome 1p.
Melanoma research 2008;18(3):208-13.
2008: Hanneke W Mensink; Emine Kiliç; Jolanda Vaarwater; Hannie Douben; Dion Paridaens; Annelies de Klein
Molecular cytogenetic analysis of archival uveal melanoma with known clinical outcome.
Cancer genetics and cytogenetics 2008;181(2):108-11.
2008: walter van gils; Emine Kilic; Hennie T Brüggenwirth; Jolanda Vaarwater; Michael M Verbiest; Berna Beverloo; Marjan E van Til-Berg; Dion Paridaens; Gregorius P M Luyten; Annelies de Klein
Regional deletion and amplification on chromosome 6 in a uveal melanoma case without abnormalities on chromosomes 1p, 3 and 8.
Melanoma research 2008;18(1):10-5.
2008: Willem Maat; Emine Kilic; Gregorius P M Luyten; Annelies de Klein; Martine J Jager; Nelleke A Gruis; Pieter A van der Velden
Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma.
Investigative ophthalmology & visual science 2008;49(1):23-7.
2007: walter van gils; Hanneke W Mensink; Emine Kilic; Jolanda Vaarwater; Michael M Verbiest; Dion Paridaens; Gregorius P M Luyten; Annelies de Klein; Hennie T Brüggenwirth
Expression of APITD1 is not related to copy number changes of chromosomal region 1p36 or the prognosis of uveal melanoma.
Investigative ophthalmology & visual science 2007;48(11):4919-23.
2007: Merel Klaassens; R J H Galjaard; Daryl A Scott; Hennie T Brüggenwirth; Diane Van Opstal; M V Fox; R R Higgins; Titia E Cohen-Overbeek; Ernst M Schoonderwaldt; Brendan Lee; Dick Tibboel; Annelies de Klein
Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.
American journal of medical genetics. Part A 2007;143A(18):2204-12.
2007: Niels Beurskens; Merel Klaassens; Robbert Rottier; Annelies de Klein; Dick Tibboel
Linking animal models to human congenital diaphragmatic hernia.
Birth defects research. Part A, Clinical and molecular teratology 2007;79(8):565-72.
2007: Janine F Felix; Régine P M Steegers-Theunissen; H E K de Walle; Annelies de Klein; Claudine P Torfs; Dick Tibboel
Esophageal atresia and tracheoesophageal fistula in children of women exposed to diethylstilbestrol in utero.
American journal of obstetrics and gynecology 2007;197(1):38.e1-5.
2007: Ashley M Holder; Merel Klaassens; Dick Tibboel; Annelies de Klein; Brendan Lee; Daryl A Scott
Genetic factors in congenital diaphragmatic hernia.
American journal of human genetics 2007;80(5):825-45.
2007: Janine F Felix; Dick Tibboel; Annelies de Klein
Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula.
European journal of medical genetics 2007;50(3):163-75.
2007: Bert H J Eussen; Ingrid Van de Laar; Hannie Douben; Leo van Kempen; Ron Hochstenbach; Stella A De Man; Diane Van Opstal; Annelies de Klein; Pino J Poddighe
A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.
European journal of medical genetics 2007;50(2):112-9.
2007: Daryl A Scott; Merel Klaassens; Ashley M Holder; Kevin P Lally; Caraciolo J Fernandes; R J H Galjaard; Dick Tibboel; Annelies de Klein; Brendan Lee
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.
Human molecular genetics 2007;16(4):424-30.
2006: Emine Kilic; walter van gils; Elisabeth Lodder; Berna Beverloo; Marjan E van Til; Cornelia M Mooy; Dion Paridaens; Annelies de Klein; Gregorius P M Luyten
Clinical and cytogenetic analyses in uveal melanoma.
Investigative ophthalmology & visual science 2006;47(9):3703-7.
2006: Merel Klaassens; Daryl A Scott; Marieke F van Dooren; Ron Hochstenbach; HJ Eussen; W W Cai; R J H Galjaard; Cokkie H Wouters; Martin Poot; Jacqueline A M Laudy; Brendan Lee; Dick Tibboel; Annelies de Klein
Congenital diaphragmatic hernia associated with duplication of 11q23-qter.
American journal of medical genetics. Part A 2006;140(14):1580-6.
2006: Ingrid P C Krapels; Christl Vermeij-Keers; Michael Müller; Annelies de Klein; Régine P M Steegers-Theunissen
Nutrition and genes in the development of orofacial clefting.
Nutrition reviews 2006;64(6):280-8.
2006: Janine F Felix; Marjolein A J van Looij; Ralph V Pruijsten; Ronald R de Krijger; Annelies de Klein; Dick Tibboel; Hans L J Hoeve
Agenesis of the trachea: phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients.
International journal of pediatric otorhinolaryngology 2006;70(2):365-70.
2005: Emine Kilic; Nicole C Naus; walter van gils; Caroline C W Klaver; Marjan E van Til; Michael M Verbiest; Theo Stijnen; Cornelia M Mooy; Dion Paridaens; Berna Beverloo; Gregorius P M Luyten; Annelies de Klein
Concurrent loss of chromosome arm 1p and chromosome 3 predicts a decreased disease-free survival in uveal melanoma patients.
Investigative ophthalmology & visual science 2005;46(7):2253-7.
2005: Inge Marieke de Heer; Annelies de Klein; Ans M W van den Ouweland; Christl Vermeij-Keers; Cokkie H Wouters; J Michiel Vaandrager; Steven E R Hovius; Jeannette M Hoogeboom
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
Plastic and reconstructive surgery 2005;115(7):1894-902; discussion 1903-5.
2005: Merel Klaassens; Marieke F van Dooren; HJ Eussen; H Douben; A T den Dekker; C Lee; P K Donahoe; R J H Galjaard; Natascha N T Goemaere; Ronald R de Krijger; Cokkie H Wouters; J Wauters; Ben A Oostra; Dick Tibboel; Annelies de Klein
Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.
American journal of human genetics 2005;76(5):877-82.
2005: Angela van Tilborg; Bushra Al Allak; Sandra C J M Velthuizen; Annie de Vries; Johan M Kros; Cees J J Avezaat; Annelies de Klein; Berna Beverloo; Ellen C Zwarthoff
Chromosomal instability in meningiomas.
Journal of neuropathology and experimental neurology 2005;64(4):312-22.
2005: Mark Nellist; Ozgur Sancak; Miriam A Goedbloed; M van Veghel-Plandsoen; anneke maat-kievit; Dick Lindhout; Bert H J Eussen; Annelies de Klein; D J J Halley; Ans M W van den Ouweland
Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.
Genetic testing 2005;9(3):226-30.
2004: Johannes Bliek; Annelies de Klein; Theo M Luider; Jan Lindemans; L Hulsman; C Guzel; Christianne J M De Groot; Régine P M Steegers-Theunissen
New approach for the identification of folate-related pathways in human embryogenesis.
Cellular and molecular biology (Noisy-le-Grand, France) 2004;50(8):939-44.
2004: Inge Marieke de Heer; Jeannette Hoogeboom; Christl Vermeij-Keers; Annelies de Klein; J Michiel Vaandrager
Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome.
The Journal of craniofacial surgery 2004;15(6):1048-52.
2004: Marieke F van Dooren; Natascha N T Goemaere; Annelies de Klein; Dick Tibboel; Ronald R de Krijger
Postmortem findings and clinicopathological correlation in congenital diaphragmatic hernia.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2004;7(5):459-67.
2004: Magda Budzowska; Iris Jaspers; Jeroen Essers; Harm de Waard; Ellen van Drunen; Katsuhiro Hanada; Berna Beverloo; Rudolf W Hendriks; Annelies de Klein; Roland Kanaar; Jan H J Hoeijmakers; Alex Maas
Mutation of the mouse Rad17 gene leads to embryonic lethality and reveals a role in DNA damage-dependent recombination.
The EMBO journal 2004;23(17):3548-58.
2004: Emine Kiliç; Hennie T Brüggenwirth; Michael M Verbiest; Ellen C Zwarthoff; Neeltje M Mooy; Gregorius P M Luyten; Annelies de Klein
The RAS-BRAF kinase pathway is not involved in uveal melanoma.
Melanoma research 2004;14(3):203-5.
2004: Inge Marieke de Heer; A J M Hoogeboom; HJ Eussen; J Michiel Vaandrager; Annelies de Klein
Deletion of the TWIST gene in a large five-generation family.
Clinical genetics 2004;65(5):396-9.
2003: Gerard J M J van den Aardweg; Emine Kiliç; Annelies de Klein; Gregorius P M Luyten
Dose fractionation effects in primary and metastatic human uveal melanoma cell lines.
Investigative ophthalmology & visual science 2003;44(11):4660-4.
2002: Gerard J M J van den Aardweg; Nicole C Naus; Anette C A Verhoeven; Annelies de Klein; Gregorius P M Luyten
Cellular radiosensitivity of primary and metastatic human uveal melanoma cell lines.
Investigative ophthalmology & visual science 2002;43(8):2561-5.
2002: Nicole C Naus; Anette C A Verhoeven; Ellen van Drunen; Rosalyn Slater; Cornelia M Mooy; Dion Paridaens; Gregorius P M Luyten; Annelies de Klein
Detection of genetic prognostic markers in uveal melanoma biopsies using fluorescence in situ hybridization.
Clinical cancer research : an official journal of the American Association for Cancer Research 2002;8(2):534-9.
2001: Berna Beverloo; I Panagopoulos; M Isaksson; Elisabeth R van Wering; Ellen van Drunen; Annelies de Klein; B Johansson; Rosalyn Slater
Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13).
Cancer research 2001;61(14):5374-7.
2001: Nicole C Naus; Ellen van Drunen; Annelies de Klein; Gregorius P M Luyten; Dion Paridaens; Janneke C Alers; Bruce R Ksander; Berna Beverloo; Rosalyn M Slater
Characterization of complex chromosomal abnormalities in uveal melanoma by fluorescence in situ hybridization, spectral karyotyping, and comparative genomic hybridization.
Genes, chromosomes & cancer 2001;30(3):267-73.
2000: Annelies de Klein; Manja Muijtjens; RI van Os; Y Verhoeven; B Smit; A M Carr; Alan Lehmann; Jan H J Hoeijmakers
Targeted disruption of the cell-cycle checkpoint gene ATR leads to early embryonic lethality in mice.
Current biology : CB 2000;10(8):479-82.
1999: Cornelia M Mooy; Nicole C Naus; Annelies de Klein; W A van den Bosch; Dion Paridaens
Orbital chondrosarcoma developing in a patient with Paget disease.
American journal of ophthalmology 1999;127(5):619-21.
1999: H A Bluyssen; Nicole C Naus; RI van Os; Iris Jaspers; Jan H J Hoeijmakers; Annelies de Klein
Human and mouse homologs of the Schizosaccharomyces pombe rad17+ cell cycle checkpoint control gene.
Genomics 1999;55(2):219-28.
1998: H A Bluyssen; RI van Os; Nicole C Naus; Iris Jaspers; Jan H J Hoeijmakers; Annelies de Klein
A human and mouse homolog of the Schizosaccharomyces pombe rad1+ cell cycle checkpoint control gene.
Genomics 1998;54(2):331-7.
1998: Annelies de Klein; P H J Riegman; E K Bijlsma; A Heldoorn; Manja Muijtjens; Michael A Den Bakker; Cees J J Avezaat; Ellen C Zwarthoff
A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2.
Human molecular genetics 1998;7(3):393-8.
1998: Annegien Broeks; Annelies de Klein; Arno N Floore; Manja Muijtjens; W J Kleijer; N G Jaspers; Laura J van 't Veer
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
Human mutation 1998;12(5):330-7.
1995: Berna Beverloo; M Le Coniat; J Wijsman; Debra M Lillington; O Bernard; Annelies de Klein; Elisabeth R van Wering; Jeanna Welborn; Bryan D Young; Anne Hagemeijer
Breakpoint heterogeneity in t(10;11) translocation in AML-M4/M5 resulting in fusion of AF10 and MLL is resolved by fluorescent in situ hybridization analysis.
Cancer research 1995;55(19):4220-4.
1993: A H Bootsma; C H J van Eijck; K K Schouten; J C Reubi; Beatrice Waser; John A Foekens; R van Pel; Ellen C Zwarthoff; Steven W J Lamberts; Annelies de Klein
Somatostatin receptor-positive primary breast tumors: genetic, patient and tumor characteristics.
International journal of cancer. Journal international du cancer 1993;54(3):357-62.
1992: A H Bootsma; C J Cornelisse; Annelies de Klein
[Oncogenes, tumor suppression genes and medical genetics of cancer].
Nederlands tijdschrift voor geneeskunde 1992;136(21):1009-13.
1991: R H Deprez; N A van Biezen; G J Breedveld; K R Boejharat; Annelies de Klein; A H Geurts van Kessel; Ellen C Zwarthoff
A new polymorphic probe on chromosome 22: NB5 (D22S201).
Nucleic acids research 1991;19(8):1963.
1991: R H Lekanne Deprez; N A van Biezen; Peter Heutink; K R Boejharat; Annelies de Klein; A H Geurts van Kessel; Ellen C Zwarthoff
A new polymorphic probe on chromosome 22q: NB129 (D22S193).
Nucleic acids research 1991;19(3):687.
1991: R H Lekanne Deprez; N A van Biezen; Peter Heutink; K R Boejharat; Annelies de Klein; A H Geurts van Kessel; Ellen C Zwarthoff
A new polymorphic probe on chromosome 22: NB84 (D22S183).
Nucleic acids research 1991;19(3):687.
1991: R H Lekanne Deprez; N A van Biezen; Peter Heutink; K R Boejharat; Annelies de Klein; A H Geurts van Kessel; Ellen C Zwarthoff
A new polymorphic probe on chromosome 22: NB35 (D22S182).
Nucleic acids research 1991;19(3):686.
1991: R H Lekanne Deprez; N A van Biezen; Peter Heutink; K R Boejharat; Annelies de Klein; A H Geurts van Kessel; Ellen C Zwarthoff
A new polymorphic probe on chromosome 22: NB17 (D22S181).
Nucleic acids research 1991;19(3):686.
1990: A H Bootsma; Annelies de Klein; J C Reubi; Ellen C Zwarthoff; Steven W J Lamberts
Genetic changes in somatostatin receptor positive breast tumors.
The Journal of steroid biochemistry and molecular biology 1990;37(6):829-32.
1987: Dies Meijer; A Hermans; Marieke von Lindern; Ton van Agthoven; Annelies de Klein; P Mackenbach; A Grootegoed; D Talarico; G Della Valle; Gerard C Grosveld
Molecular characterization of the testis specific c-abl mRNA in mouse.
The EMBO journal 1987;6(13):4041-8.
1987: Annelies de Klein; C R Bartram; A Hagemeijer; N Heisterkamp; K Stam; J Groffen; Gerard C Grosveld
The c-abl oncogene in chronic myelogenous leukemia.
Haematologica 1987;72(6 Suppl):19-22.
1987: Gerard C Grosveld; A Hermans; Annelies de Klein; Dirk Bootsma; N Heisterkamp; J Groffen
The role of the Philadelphia translocation in chronic myelocytic leukemia.
Annals of the New York Academy of Sciences 1987;511():262-9.
1986: Annelies de Klein; Ton van Agthoven; C Groffen; N Heisterkamp; J Groffen; Gerard C Grosveld
Molecular analysis of both translocation products of a Philadelphia-positive CML patient.
Nucleic acids research 1986;14(17):7071-82.
1986: Gerard C Grosveld; T Verwoerd; Ton van Agthoven; Annelies de Klein; K L Ramachandran; N Heisterkamp; K Stam; J Groffen
The chronic myelocytic cell line K562 contains a breakpoint in bcr and produces a chimeric bcr/c-abl transcript.
Molecular and cellular biology 1986;6(2):607-16.
1986: M A Versnel; J J van Dongen; A H Geurts van Kessel; Annelies de Klein; N A Bos; A Hagemeijer
Expression of the human immunoglobulin heavy chain gene of the 14q+ chromosome in a t(8;14)-positive Burkitt lymphoma cell line demonstrated in somatic cell hybrids.
Cancer genetics and cytogenetics 1986;19(3-4):321-30.
1986: Annelies de Klein; A Hermans; Dirk Bootsma; Gerard C Grosveld; N Heisterkamp; K Stam; J Groffen
The role of the Philadelphia translocation in chronic myelocytic leukemia.
Annals of clinical research 1986;18(5-6):278-83.
1985: K Stam; N Heisterkamp; Gerard C Grosveld; Annelies de Klein; R S Verma; M Coleman; H Dosik; J Groffen
Evidence of a new chimeric bcr/c-abl mRNA in patients with chronic myelocytic leukemia and the Philadelphia chromosome.
The New England journal of medicine 1985;313(23):1429-33.
1985: N Heisterkamp; K Stam; J Groffen; Annelies de Klein; Gerard C Grosveld
Structural organization of the bcr gene and its role in the Ph' translocation.
Nature 1985;315(6022):758-61.
1983: C R Bartram; Annelies de Klein; Anne Hagemeijer; Ton van Agthoven; A Geurts van Kessel; Dirk Bootsma; Gerard C Grosveld; M A Ferguson-Smith; T Davies; M Stone
Translocation of c-ab1 oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia.
Nature 1983;306(5940):277-80.