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Gerard Pals

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Fleur S van Dijk; Agnieszka Rusinska; Oliver Semler; Sofie Symoens; Raymond Dalgleish; Fransiska Malfait; Alessandra Maugeri; Gerard Pals
Clinical utility gene card for: osteogenesis imperfecta.
Y Hilhorst-Hofstee; L J Kroft; Gerard Pals; Monique Reijnierse; Arie van Haeringen; M E B Rijlaarsdam; Claudia Ruivenkamp; Arthur J H A Scholte; Michel I M Versteegh; M H Breuning
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
Fleur van Dijk; Rick van Rijn; Jan Maarten Cobben; Alessandra Maugeri; Peter Nikkels; Gerard Pals
[Osteogenesis imperfecta: clinical and genetic heterogeneity].

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2013: Fleur S van Dijk; Agnieszka Rusinska; Oliver Semler; Sofie Symoens; Raymond Dalgleish; Fransiska Malfait; Alessandra Maugeri; Gerard Pals
Clinical utility gene card for: osteogenesis imperfecta.
European journal of human genetics : EJHG 2013;21(6):.
2013: Y Hilhorst-Hofstee; L J Kroft; Gerard Pals; Monique Reijnierse; Arie van Haeringen; M E B Rijlaarsdam; Claudia Ruivenkamp; Arthur J H A Scholte; Michel I M Versteegh; M H Breuning
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
Clinical genetics 2013;83(4):337-44.
2012: Fleur van Dijk; Rick van Rijn; Jan Maarten Cobben; Alessandra Maugeri; Peter Nikkels; Gerard Pals
[Osteogenesis imperfecta: clinical and genetic heterogeneity].
Nederlands tijdschrift voor geneeskunde 2012;156(21):A4585.
2012: Teodora Radonic; Arthur J Scholte; Janneke Timmermans; Maarten P van den Berg; Marco van Eijk; J Peter van Tintelen; Marieke J H Baars; Vivian de Waard; Piet de Witte; Maarten Groenink; Y Hilhorst-Hofstee; Marnix Jansen; Marlies Kempers; Rene Lutter; Barbara J M Mulder; Gerard Pals; Aeilko H Zwinderman
Inflammation aggravates disease severity in Marfan syndrome patients.
PloS one 2012;7(3):e32963.
2012: E D Setijowati; Erik A Sistermans; Fleur van Dijk; Rick van Rijn; Jan Maarten Cobben; S M H Faradz; S Kawiyana; Gerard Pals
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.
European journal of medical genetics 2012;55(1):17-21.
2011: Fleur S van Dijk; Rick R van Rijn; Jan Maarten Cobben; Nicolette S den Hollander; Isabel M Nesbitt; Peter Nikkels; Gerard Pals
Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2011;14(3):228-34.
2011: Y Hilhorst-Hofstee; Ben C J Hamel; Joke B G M Verheij; Marry E B Rijlaarsdam; Grazia M S Mancini; Jan M Cobben; Cindy Giroth; Claudia Ruivenkamp; K B M Hansson; Janneke Timmermans; Henriette A Moll; Martijn H Breuning; Gerard Pals
The clinical spectrum of complete FBN1 allele deletions.
European journal of human genetics : EJHG 2011;19(3):247-52.
2010: Y Hilhorst-Hofstee; Marry E B Rijlaarsdam; Arthur J H A Scholte; Marietta Swart-van den Berg; Michel I M Versteegh; Iris van der Schoot-van Velzen; Hans-Joachim Schäbitz; Emilia K Bijlsma; Marieke J Baars; Wilhelmina S Kerstjens-Frederikse; Jacques C Giltay; Ben C J Hamel; Martijn H Breuning; Gerard Pals
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Human mutation 2010;31(12):E1915-27.
2010: Fleur van Dijk; Margriet Huizer; Ariana Kariminejad; Carlo L Marcelis; Astrid S Plomp; Paulien A Terhal; Hanne Meijers-Heijboer; Janneke Weiss; Rick van Rijn; Jan Maarten Cobben; Gerard Pals
Complete COL1A1 allele deletions in osteogenesis imperfecta.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(11):736-41.
2010: Fleur van Dijk; Gerard Pals; Rick van Rijn; Peter Nikkels; Jan Maarten Cobben
Classification of Osteogenesis Imperfecta revisited.
European journal of medical genetics 2010;53(1):1-5.
2009: Fleur van Dijk; Isabel M Nesbitt; Peter Nikkels; Ann Dalton; Ernie M H F Bongers; Jiddeke M van de Kamp; Yvonne Hilhorst-Hofstee; Nicolette S Den Hollander; Augusta M A Lachmeijer; Carlo L Marcelis; G Tan-Sindhunata; Rick van Rijn; Hanne Meijers-Heijboer; Jan Maarten Cobben; Gerard Pals
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
European journal of human genetics : EJHG 2009;17(12):1560-9.
2009: Fleur van Dijk; Isabel M Nesbitt; Eline H Zwikstra; Peter Nikkels; Sander R Piersma; Silvina A Fratantoni; Connie R Jimenez; Margriet Huizer; Alice C Morsman; Jan M Cobben; Mirjam H H van Roij; Mariet W Elting; J I M L Verbeke; Liliane C D Wijnaendts; Nick J Shaw; Wolfgang Högler; Carole McKeown; Erik A Sistermans; Ann Dalton; Hanne Meijers-Heijboer; Gerard Pals
PPIB mutations cause severe osteogenesis imperfecta.
American journal of human genetics 2009;85(4):521-7.
2008: Y Hilhorst-Hofstee; Lucia J M Kroft; Gerard Pals; Jeroen P P van Vugt; Wouterina C G Overweg-Plandsoen
Intracranial hypertension in 2 children with marfan syndrome.
Journal of child neurology 2008;23(8):954-5.
2008: Najim Ameziane; a Errami; France Léveillé; Chantal Fontaine; Yne de Vries; Rosalina Spaendonk; Johan P de Winter; Gerard Pals; Hans Joenje
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
Human mutation 2008;29(1):159-66.
2007: Reinhard Kalb; Kornelia Neveling; Holger Hoehn; Hildegard Schneider; Yvonne Linka; Sat Dev Batish; Curtis Hunt; Marianne Berwick; Elsa Callen; Jordi Surralles; José A Casado; Juan A. Bueren; Angeles Dasi; Jean Soulier; Eliane Gluckman; C Michel Zwaan; Rosalina Spaendonk; Gerard Pals; Johan P de Winter; Hans Joenje; Markus Grompe; Arleen D Auerbach; Helmut Hanenberg; Detlev Schindler
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
American journal of human genetics 2007;80(5):895-910.
2007: Bing Xia; Josephine C Dorsman; Najim Ameziane; Yne de Vries; Martin A Rooimans; Qing Sheng; Gerard Pals; a Errami; Eliane Gluckman; Julian Llera; Weidong Wang; David M Livingston; Hans Joenje; Johan P de Winter
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
Nature genetics 2007;39(2):159-61.
2007: Josephine C Dorsman; Marieke Levitus; Davy A P Rockx; Martin A Rooimans; Anneke B Oostra; Anneke Haitjema; Sietske T Bakker; Jûrgen Steltenpool; Dezsö Schuler; Sheila Mohan; Detlev Schindler; Fré Arwert; Gerard Pals; Christopher G Mathew; Quinten Waisfisz; Johan P de Winter; Hans Joenje
Identification of the Fanconi anemia complementation group I gene, FANCI.
Cellular oncology : the official journal of the International Society for Cellular Oncology 2007;29(3):211-8.
2006: Prabath W B Nanayakkara; C C van Bunderen; Suat Simsek; Yvo M Smulders; Gerard Pals
Vascular type of Ehlers-Danlos syndrome in a patient with ruptured aneurysm of the splenic artery.
The Netherlands journal of medicine 2006;64(10):374-6.
2006: Maria J Worsham; Kang Mei Chen; Nivedita Tiwari; Gerard Pals; Jan P Schouten; Seema Sethi; Michael S Benninger
Fine-mapping loss of gene architecture at the CDKN2B (p15INK4b), CDKN2A (p14ARF, p16INK4a), and MTAP genes in head and neck squamous cell carcinoma.
Archives of otolaryngology--head & neck surgery 2006;132(4):409-15.
2006: Maria J Worsham; Gerard Pals; Jan P Schouten; Fred R Miller; Nivedita Tiwari; Rosalina Spaendonk; Sandra R Wolman
High-resolution mapping of molecular events associated with immortalization, transformation, and progression to breast cancer in the MCF10 model.
Breast cancer research and treatment 2006;96(2):177-86.
2006: Jane Yates; Winifred Keeble; Gerard Pals; Najim Ameziane; Rosalina Spaendonk; Susan B Olson; Yassmine Akkari; Ricardo Pasquini; Grover C Bagby
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
Human mutation 2006;27(2):214.
2005: Marieke Levitus; Quinten Waisfisz; Barbara C Godthelp; Yne de Vries; Shobbir Hussain; Wouter W Wiegant; Elhaam Elghalbzouri-Maghrani; Jûrgen Steltenpool; Martin A Rooimans; Gerard Pals; Fré Arwert; Christopher G Mathew; Malgorzata Z Zdzienicka; Kevin Hiom; Johan P de Winter; Hans Joenje
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
Nature genetics 2005;37(9):934-5.
2005: BLANCHE ALTER; Hans Joenje; Anneke B Oostra; Gerard Pals
Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism.
Archives of otolaryngology--head & neck surgery 2005;131(7):635-9.
2005: Clarissa van Vlijmen-van Keulen; Jan A Rauwerda; Gerard Pals
Genome-wide linkage in three Dutch families maps a locus for abdominal aortic aneurysms to chromosome 19q13.3.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 2005;30(1):29-35.
2005: Hester van Zeeburg; Peter J F Snijders; Gerard Pals; Mario A J A Hermsen; Martin A Rooimans; Grover C Bagby; Jean Soulier; Eliane Gluckman; Johan Wennerberg; René Leemans; Hans Joenje; Ruud H Brakenhoff
Generation and molecular characterization of head and neck squamous cell lines of fanconi anemia patients.
Cancer research 2005;65(4):1271-6.
2005: Tineke E Buffart; Jordy Coffa; Mario A J A Hermsen; Beatriz Carvalho; J R M van der Sijp; Bauke Ylstra; Gerard Pals; Jan P Schouten; Gerrit A Meijer
DNA copy number changes at 8q11-24 in metastasized colorectal cancer.
Cellular oncology : the official journal of the International Society for Cellular Oncology 2005;27(1):57-65.
2004: Amom Ruhikanta Meetei; Marieke Levitus; Yutong Xue; Annette L Medhurst; Michel Zwaan; Chen Ling; Martin A Rooimans; Patrick Bier; Maureen Hoatlin; Gerard Pals; Johan P de Winter; Weidong Wang; Hans Joenje
X-linked inheritance of Fanconi anemia complementation group B.
Nature genetics 2004;36(11):1219-24.
2004: F Chen; Annette L Medhurst; Johan P de Winter; Quinten Waisfisz; Martin A Rooimans; Anneke B Oostra; Stefan Meyer; K J Zhang; Bing Xia; Gerard Pals; Fré Arwert; C M Zwaan; Hans Joenje
Apparent absence of BRCA2 protein in a proportion of acute myeloid leukemia cell lines.
Leukemia 2004;18(11):1918-20.
2004: Cees B M Oudejans; Joyce Mulders; Augusta M A Lachmeijer; Marie Van Dijk; Andrea A M Könst; Bart A Westerman; Inge J van Wijk; P A J Leegwater; Hidenori D Kato; Takao Matsuda; Norio Wake; Gustaaf A Dekker; Gerard Pals; Leo P ten Kate; Marinus A Blankenstein
The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas.
Molecular human reproduction 2004;10(8):589-98.
2004: Hidenori Shibamura; Jane M Olson; Clarissa van Vlijmen-van Keulen; Sarah Buxbaum; Doreen M Dudek; Gerard Tromp; Toru Ogata; Magdalena Skunca; Natzi Sakalihasan; Gerard Pals; Raymond Limet; Gerald L Mackean; Olivier D Defawe; Alain Verloes; Claudette Arthur; Alan G Lossing; Marjorie Burnett; Taijiro Sueda; Helena Kuivaniemi
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13.
Circulation 2004;109(17):2103-8.
2003: Suat Simsek; Prabath W B Nanayakkara; J M F Keek; L M Faber; K F Bruin; Gerard Pals
Two Dutch families with hereditary hyperferritinaemia-cataract syndrome and heterozygosity for an HFE-related haemochromatosis gene mutation.
The Netherlands journal of medicine 2003;61(9):291-5.
2003: Clarissa van Vlijmen-van Keulen; Anco C Vahl; Raoul Hennekam; Jan A Rauwerda; Gerard Pals
Genetic linkage of candidate genes in families with abdominal aortic aneurysms?
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 2003;26(2):205-10.
2003: Maria J Worsham; Gerard Pals; Jan P Schouten; Rosalina Spaendonk; Adrianne Concus; Thomas Carey; Michael S Benninger
Delineating genetic pathways of disease progression in head and neck squamous cell carcinoma.
Archives of otolaryngology--head & neck surgery 2003;129(7):702-8.
2003: Jurgen M J Piek; René H M Verheijen; Fred H Menko; A P M Jongsma; Jitske Weegenaar; Johan J P Gille; Gerard Pals; Peter Kenemans; Paulus van Diest
Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition.
Histopathology 2003;43(1):26-32.
2003: Frans B L Hogervorst; petra nederlof; Johan J P Gille; Cathal J McElgunn; Maartje Grippeling; Roelof Pruntel; Rein Regnerus; Tibor van Welsem; Rosalina Spaendonk; Fred H Menko; Irma Kluijt; Charlotte Dommering; Senno Verhoef; Jan P Schouten; Laura J van't Veer; Gerard Pals
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.
Cancer research 2003;63(7):1449-53.
2003: Helena Kuivaniemi; Hidenori Shibamura; Claudette Arthur; Ramon Berguer; C William Cole; Tatu Juvonen; Ronald A Kline; Raymond Limet; Gerald L Mackean; Orjan Norrgård; Gerard Pals; Janet T Powell; Pekka Rainio; Natzi Sakalihasan; Clarissa van Vlijmen-van Keulen; Alain Verloes; Gerard Tromp
Familial abdominal aortic aneurysms: collection of 233 multiplex families.
Journal of vascular surgery 2003;37(2):340-5.
2003: Lidewij Henneman; Inge Bramsen; Linda van Kempen; Manita B van Acker; Gerard Pals; Henriette E van der Horst; Herman J Adèr; Henk M van der Ploeg; Leo P ten Kate
Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services.
Community genetics 2003;6(1):5-13.
2002: Augusta M A Lachmeijer; Gustaaf A Dekker; Gerard Pals; Jan G Aarnoudse; Leo P ten Kate; Reynir Arngrímsson
Searching for preeclampsia genes: the current position.
European journal of obstetrics, gynecology, and reproductive biology 2002;105(2):94-113.
2002: Johan J P Gille; Frans B L Hogervorst; Gerard Pals; Juul Wijnen; R J van Schooten; Charlotte Dommering; Gerrit A Meijer; Mikael E Craanen; petra nederlof; Daphne de Jong; Cathal J McElgunn; Jan P Schouten; Fred H Menko
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
British journal of cancer 2002;87(8):892-7.
2002: Clarissa van Vlijmen-van Keulen; Gerard Pals; Jan A Rauwerda
Familial abdominal aortic aneurysm: a systematic review of a genetic background.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 2002;24(2):105-16.
2002: Niall G Howlett; Toshiyasu Taniguchi; Susan B Olson; Barbara Cox; Quinten Waisfisz; C E M de Die-Smulders; Nicole Persky; Markus Grompe; Hans Joenje; Gerard Pals; Hideyuki Ikeda; Edward A Fox; Alan D D'Andrea
Biallelic inactivation of BRCA2 in Fanconi anemia.
Science (New York, N.Y.) 2002;297(5581):606-9.
2002: Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny A Zwijnenburg; Filip Diepvens; Gerard Pals
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.
Nucleic acids research 2002;30(12):e57.
2002: Augusta M A Lachmeijer; Maria P Nosti-Escanilla; Esther B Bastiaans; Gerard Pals; Lodewijk A Sandkuijl; Piet J Kostense; Jan G Aarnoudse; J B A Crusius; Amado Salvador Peña; Gustaaf A Dekker; Reynir Arngrímsson; Leo P ten Kate
Linkage and association studies of IL1B and IL1RN gene polymorphisms in preeclampsia.
Hypertension in pregnancy : official journal of the International Society for the Study of Hypertension in Pregnancy 2002;21(1):23-38.
2002: Maria J Worsham; Gerard Pals; Usha Raju; Sandra R Wolman
Establishing a molecular continuum in breast cancer DNA microarrays and benign breast disease.
Cytometry 2002;47(1):56-9.
2001: Jurgen M J Piek; Paulus van Diest; Ronald P Zweemer; J W Jansen; RJ Poort-Keesom; Fred H Menko; Johan J P Gille; A P M Jongsma; Gerard Pals; Peter Kenemans; René H M Verheijen
Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer.
The Journal of pathology 2001;195(4):451-6.
2001: Augusta M A Lachmeijer; Reynir Arngrímsson; E J Bastiaans; Michael L Frigge; Gerard Pals; S Sigurdardóttir; H Stéfansson; B Pálsson; D Nicolae; Augustine Kong; Jan G Aarnoudse; Jeffrey R Gulcher; Gustaaf A Dekker; Leo P ten Kate; K Stéfansson
A genome-wide scan for preeclampsia in the Netherlands.
European journal of human genetics : EJHG 2001;9(10):758-64.
2001: Augusta M A Lachmeijer; J B A Crusius; Gerard Pals; Gustaaf A Dekker; Reynir Arngrímsson; Leo P ten Kate
Polymorphisms in the tumor necrosis factor and lymphotoxin-alpha gene region and preeclampsia.
Obstetrics and gynecology 2001;98(4):612-9.
2001: Augusta M A Lachmeijer; Reynir Arngrímsson; E J Bastiaans; Gerard Pals; Leo P ten Kate; J I de Vries; Piet J Kostense; Jan G Aarnoudse; Gustaaf A Dekker
Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia.
American journal of obstetrics and gynecology 2001;184(3):394-402.
2001: Gerard Pals; C Young; H S Mao; Maria J Worsham
Detection of a single base substitution in a single cell using the LightCycler.
Journal of biochemical and biophysical methods 2001;47(1-2):121-9.
2000: A Rouba; N Kaisi; E Al-Chaty; R Badin; Gerard Pals; C Young; Maria J Worsham
Patterns of allelic loss at the BRCA1 locus in Arabic women with breast cancer.
International journal of molecular medicine 2000;6(5):565-9.
2000: C J van Keulen; E van den Akker; Fred G van den Berg; Gerard Pals; Jan A Rauwerda
The role of type III collagen in family members of patients with abdominal aortic aneurysms.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 2000;20(4):379-85.
1999: Kirit Pindolia; Nalini Janakiraman; C Kasten-Sportes; Christian Demanet; C Van Waeyenberge; Gerard Pals; Maria J Worsham
Enhanced assessment of allogeneic bone marrow transplant engraftment using automated fluorescent-based typing.
Bone marrow transplantation 1999;24(11):1235-41.
1999: Gerard Pals; Kirit Pindolia; Maria J Worsham
A rapid and sensitive approach to mutation detection using real-time polymerase chain reaction and melting curve analyses, using BRCA1 as an example.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 1999;4(3):241-6.
1999: M van den Berg; SC de Jong; W Devillé; Jan A Rauwerda; Cornelis Jakobs; Gerard Pals; G H Boers; Coen D A Stehouwer
Variability of fasting and post-methionine plasma homocysteine levels in normo- and hyperhomocysteinaemic individuals.
The Netherlands journal of medicine 1999;55(1):29-38.
1999: C J van Keulen; E van de Akker; Gerard Pals; Jan A Rauwerda
The role of type III collagen in the development of familial abdominal aortic aneurysms.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 1999;18(1):65-70.
1999: SC de Jong; Coen D A Stehouwer; M van den Berg; Piet J Kostense; David J C Alders; Cornelis Jakobs; Gerard Pals; Jan A Rauwerda
Determinants of fasting and post-methionine homocysteine levels in families predisposed to hyperhomocysteinemia and premature vascular disease.
Arteriosclerosis, thrombosis, and vascular biology 1999;19(5):1316-24.
1999: M Wijker; Neil V Morgan; Sabine Herterich; Carola G M van Berkel; Alex J Tipping; Hans J Gross; Johan J P Gille; Gerard Pals; Maria Savino; Cigdem Altay; S Mohan; Inderjeet Dokal; J Cavenagh; Judith Marsh; M van Weel; JJ Ortega; D Schuler; E Samochatova; M Karwacki; Albert Bekassy; M Abecasis; Wolfram Ebell; Mei Lan Kwee; T J L de Ravel
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
European journal of human genetics : EJHG 1999;7(1):52-9.
1999: A W M Nieuwint; RM van Zalen-Sprock; Pieter Hummel; Gerard Pals; John M G van Vugt; HJ van der Harten; Yvonne M Heins; Kamlesh Madan
'Identical' twins with discordant karyotypes.
Prenatal diagnosis 1999;19(1):72-6.
1998: Augusta M A Lachmeijer; Jan G Aarnoudse; Leo P ten Kate; Gerard Pals; Gustaaf A Dekker
Concordance for pre-eclampsia in monozygous twins.
British journal of obstetrics and gynaecology 1998;105(12):1315-7.
1998: Maria J Worsham; S David Nathanson; Gerard Pals; P Christopherson; Mark Strunk; Sandra R Wolman
A new BRCA1 mutation in a Filipino woman with a family history of breast and ovarian cancer.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 1998;7(3):164-7.
1998: Ben C J Hamel; Gerard Pals; C H Engels; E van den Akker; G H Boers; P W van Dongen; PM Steijlen
Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.
Clinical genetics 1998;53(6):440-6.
1998: Ronald P Zweemer; René H M Verheijen; Johan J P Gille; Paulus van Diest; Gerard Pals; Fred H Menko
Clinical and genetic evaluation of thirty ovarian cancer families.
American journal of obstetrics and gynecology 1998;178(1 Pt 1):85-90.
1998: J R Lo Ten Foe; Frank A E Kruyt; M B Zweekhorst; Gerard Pals; Robert Alan Gibson; Christopher G Mathew; Hans Joenje; Fré Arwert
Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.
Human mutation 1998;Suppl 1():S25-7.
1997: T Peelen; Marcel van Vliet; A Petrij-Bosch; R Mieremet; C Szabo; Ans M W van den Ouweland; Frans B L Hogervorst; Richard Brohet; M J L Ligtenberg; E Teugels; Rob B van der Luijt; Annemarie H Van Der Hout; Johan J P Gille; Gerard Pals; Inge Jedema; R Olmer; Inge van Leeuwen; B Newman; M Plandsoen; M van der Est; G Brink; S Hageman; PJ Arts; M M Bakker; Peter Devilee
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.
American journal of human genetics 1997;60(5):1041-9.
1996: J R Foe; Martin A Rooimans; Lucine Bosnoyan-Collins; Noa Alon; M Wijker; L Parker; J Lightfoot; Madeleine Carreau; David F Callen; Anna Savoia; N C Cheng; Carola G M van Berkel; M H Strunk; J J Gille; Gerard Pals; Frank A E Kruyt; Jan C Pronk; Fré Arwert; Manuel Buchwald; Hans Joenje
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Nature genetics 1996;14(4):488.
1996: J R Lo Ten Foe; Martin A Rooimans; Lucine Bosnoyan-Collins; Noa Alon; M Wijker; L Parker; J Lightfoot; Madeleine Carreau; David F Callen; Anna Savoia; N C Cheng; Carola G M van Berkel; M H Strunk; J J Gille; Gerard Pals; Frank A E Kruyt; Jan C Pronk; Fré Arwert; Manuel Buchwald; Hans Joenje
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Nature genetics 1996;14(3):320-3.
1996: Mei Lan Kwee; J R Lo Ten Foe; Fré Arwert; Gerard Pals; Kamlesh Madan; A Nieuwint; PA In't Veld; A R Van der Horst; John M G van Vugt; L P Ten Kate
Early prenatal diagnosis of Fanconi anaemia in a twin pregnancy, using DNA analysis.
Prenatal diagnosis 1996;16(4):345-8.
1996: Ernst J Kuipers; Gerard Pals; Amado Salvador Peña; C W van Uffelen; astrid kok; B D Westerveld; S G M Meuwissen
Helicobacter pylori, pepsinogens and gastrin: relationship with age and development of atrophic gastritis.
European journal of gastroenterology & hepatology 1996;8(2):153-6.
1996: J M Van Hagen; Mei Lan Kwee; Kamlesh Madan; A W Nieuwint; Gerard Pals; L P ten Kate
Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother.
Genetic counseling (Geneva, Switzerland) 1996;7(3):201-6.
1996: M Wijker; Zbigniew K Wszolek; Erik C Wolters; Martin A Rooimans; Gerard Pals; Ronald F Pfeiffer; T Lynch; R L Rodnitzky; Kirk Wilhelmsen; Fré Arwert
Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21.
Human molecular genetics 1996;5(1):151-4.
1995: Ernst J Kuipers; A M Uyterlinde; Amado Salvador Peña; Robert Roosendaal; Gerard Pals; GF Nelis; H P M Festen; S G M Meuwissen
Long-term sequelae of Helicobacter pylori gastritis.
Lancet 1995;345(8964):1525-8.
1995: M Wijker; M J L Ligtenberg; F Schoute; J C Defesche; Gerard Pals; PA Bolhuis; H H Ropers; T J Hulsebos; Fred H Menko; BA van Oost
The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region.
American journal of human genetics 1995;56(5):1096-100.
1995: Ernst J Kuipers; Amado Salvador Peña; J B A Crusius; J Defize; Petra van der Stoop; S G M Meuwissen; Gerard Pals
Absence of pepsinogen A3 gene expression in the gastric mucosa of patients with gastric cancer.
Journal of clinical pathology 1995;48(4):376-9.
1995: Gerard Pals; P H Meijerink; J Defize; Jan-Paul Bebelman; M Strunk; Fré Arwert; A Timmerman; Willem H Mager
Transcription regulation of human and porcine pepsinogen A.
Advances in experimental medicine and biology 1995;362():67-75.
1994: A Zwiers; M A ten Dam; J B A Crusius; C J Werter; Gerard Pals; A J M Donker; S G M Meuwissen; R W ten Kate
The renal handling of pepsinogen A isozymogens in man.
Clinical nephrology 1994;41(3):153-8.
1993: Ernst J Kuipers; Amado Salvador Peña; G van Kamp; A M Uyterlinde; Gerard Pals; N F Pels; E Kurz-Pohlmann; S G M Meuwissen
Seroconversion for Helicobacter pylori.
Lancet 1993;342(8867):328-31.
1993: P H Meijerink; Jan-Paul Bebelman; A M Oldenburg; J Defize; RJ Planta; Aldur W Eriksson; Gerard Pals; Willem H Mager
Gastric chief cell-specific transcription of the pepsinogen A gene.
European journal of biochemistry / FEBS 1993;213(3):1283-96.
1992: E van den Akker; J E Braun; Gerard Pals; M Vincent M Lafleur; J Retèl
Single base mutations can be unequivocally and rapidly detected by analysis of DNA heteroduplexes, obtained with deletion-mutant instead of wild-type DNA.
Nucleic acids research 1992;20(24):6745-6.
1992: R A Bank; E H Hettema; M A Muijs; Gerard Pals; Fré Arwert; Dorret I Boomsma; Jan C Pronk
Variation in gene copy number and polymorphism of the human salivary amylase isoenzyme system in Caucasians.
Human genetics 1992;89(2):213-22.
1991: R A Bank; Aldur W Eriksson; Gerard Pals
High-performance liquid chromatography: purification and chromatographic behaviour of molecular variants of pepsinogen A from human urine.
Journal of chromatography 1991;571(1-2):47-59.
1991: R A Waalewijn; S G M Meuwissen; Gerard Pals; E C Hoefsmit
Localization of pepsinogen (A and C) and cellular differentiation of pepsinogen-synthesizing cells in the human gastric mucosa.
European journal of cell biology 1991;54(1):55-60.
1991: M A ten Dam; A Zwiers; J B A Crusius; Gerard Pals; G J Van Kamp; S G M Meuwissen; A J M Donker; R W ten Kate
Tubular reabsorption of pepsinogen isozymogens in man studied by the inhibition of tubular protein reabsorption with dibasic amino acids.
Clinical science (London, England : 1979) 1991;80(2):161-6.
1991: P H Meijerink; Jan-Paul Bebelman; Gerard Pals; Fré Arwert; RJ Planta; Aldur W Eriksson; Willem H Mager
Analysis of the promoter of a human pepsinogen A gene.
Advances in experimental medicine and biology 1991;306():87-90.
1991: R A Bank; R B Russell; Gerard Pals; M N James
Consequences of intramolecular ionic interactions for the activation rate of human pepsinogens A and C as revealed by molecular modelling.
Advances in experimental medicine and biology 1991;306():101-5.
1990: A Zwiers; B Crusius; Gerard Pals; A J M Donker; S G M Meuwissen; R W ten Kate
Human pepsinogen A isozymogen patterns in serum and gastric mucosa.
Gastroenterology 1990;99(6):1576-80.
1990: A Zwiers; C Toonstra; Gerard Pals; A J M Donker; S G M Meuwissen; R W ten Kate
Immunoblot technique to visualise serum pepsinogen A isozymogen patterns.
Journal of clinical pathology 1990;43(10):871-4.
1990: R W Ten Kate; H A Tuynman; H P M Festen; Gerard Pals; S G M Meuwissen
Pharmacology of pepsinogen secretion: influence of pentagastrin on pepsinogen secretion in man.
Hepato-gastroenterology 1990;37(1):124-7.
1989: R W ten Kate; Gerard Pals; J C Res; G J van Kamp; F W Verheugt; Jan C Pronk; A J M Donker; Aldur W Eriksson; S G M Meuwissen
The glomerular sieving of pepsinogen A and C in man.
European journal of clinical investigation 1989;19(3):306-10.
1989: R W ten Kate; Gerard Pals; Aldur W Eriksson; A J M Donker; S G M Meuwissen
The renal metabolism of pepsinogen A and C in man.
Clinical nephrology 1989;31(2):103-6.
1989: R W ten Kate; Gerard Pals; A J M Donker; Jan C Pronk; S G M Meuwissen
Tubular handling of pepsinogen A and C in man: evidence for two distinct tubular reabsorption mechanisms for low molecular weight proteins in man.
Nephron 1989;53(3):223-8.
1988: R W ten Kate; Gerard Pals; Jan C Pronk; R A Bank; Aldur W Eriksson; A J M Donker; S G M Meuwissen
Renal handling of pepsinogens A and C in man.
Clinical science (London, England : 1979) 1988;75(6):649-54.
1988: Gerard Pals; Aldur W Eriksson; Jan C Pronk; R R Frants; Elly C Klinkenberg-Knol; A Bosma; B D Westerveld; R T Taggart; I M Samloff; S G M Meuwissen
Differential expression of pepsinogen isozymogens in a patient with Barrett esophagus.
Clinical genetics 1988;34(2):90-7.
1988: Gerard Pals; B D Westerveld; J Defize; Jan C Pronk; H Brand; M Flipse; C Verwey; S G M Meuwissen; Aldur W Eriksson
Discrepancies between gastric mucosal and urinary pepsinogen A patterns and in vitro synthesis and secretion of human pepsinogen.
Digestive diseases and sciences 1988;33(2):135-43.
1988: R W Ten Kate; H A Tuynman; H P M Festen; Gerard Pals; S G M Meuwissen
Effect of high dose omeprazole on gastric pepsin secretion and serum pepsinogen levels in man.
European journal of clinical pharmacology 1988;35(2):173-6.
1988: S G M Meuwissen; A Bosma; E van Donk; R Waalewijn; Gerard Pals; Jan C Pronk; Aldur W Eriksson; H Mullink; C J Meijer
Immunohistochemical localization of pepsinogen A and C containing cells in Barrett's oesophagus.
Virchows Archiv. A, Pathological anatomy and histopathology 1988;413(1):11-6.
1987: B D Westerveld; Gerard Pals; A Bosma; J Defize; Jan C Pronk; R R Frants; Aldur W Eriksson; S G M Meuwissen
Gastric proteases in Barrett's esophagus.
Gastroenterology 1987;93(4):774-8.
1987: B D Westerveld; Gerard Pals; Cornelis B H W Lamers; J Defize; Jan C Pronk; R R Frants; E C Ooms; J Kreuning; P J Kostense; Aldur W Eriksson
Clinical significance of pepsinogen A isozymogens, serum pepsinogen A and C levels, and serum gastrin levels.
Cancer 1987;59(5):952-8.
1987: Jan C Pronk; Dorret I Boomsma; Gerard Pals; R R Frants; M Overbeke; S G M Meuwissen; JF Orlebeke; Aldur W Eriksson
Twin studies on urinary pepsinogen A phenotypes and serum pepsinogen A levels.
Acta geneticae medicae et gemellologiae 1987;36(4):517-21.
1986: B D Westerveld; Gerard Pals; J Defize; Jan C Pronk; R R Frants; E C Ooms; J Kreuning; Aldur W Eriksson; S G M Meuwissen
Pepsinogen A polymorphism in gastric mucosa and urine, with special reference to patients with gastric cancer.
Clinical genetics 1986;30(3):202-12.
1986: H P M Festen; H A Tuynman; J Défize; Gerard Pals; R R Frants; J P Straub; S G M Meuwissen
Effect of single and repeated doses of oral omeprazole on gastric acid and pepsin secretion and fasting serum gastrin and serum pepsinogen I levels.
Digestive diseases and sciences 1986;31(6):561-6.
1985: J Défize; Gerard Pals; Jan C Pronk; R R Frants; G Rimmelzwaan; B D Westerveld; Aldur W Eriksson
Purification of the pepsinogen A isozymogens by means of high resolution ion-exchange chromatography. Evidence for post-translational modifications.
Scandinavian journal of clinical and laboratory investigation 1985;45(7):649-55.
1985: J Défize; Gerard Pals; R R Frants; B D Westerveld; H P M Festen; Jan C Pronk; S G M Meuwissen; Aldur W Eriksson
The influence of omeprazole on the synthesis and secretion of pepsinogen in isolated rabbit gastric glands.
Biochemical pharmacology 1985;34(20):3693-9.
1985: Gerard Pals; J Defize; Jan C Pronk; R R Frants; Aldur W Eriksson; B D Westerveld; S G M Meuwissen; I Biemond
Relations between serum pepsinogen levels, pepsinogen phenotypes, ABO blood groups, age and sex in blood donors.
Annals of human biology 1985;12(5):403-11.
1985: GF Nelis; Cornelis B H W Lamers; Gerard Pals
Influence of RP 40749 on basal and meal-stimulated serum-gastrin, serum-pepsinogen I, and gastrin-content of the antral mucosa in duodenal ulcer patients.
Digestive diseases and sciences 1985;30(7):617-23.
1985: Gerard Pals; B D Westerveld; Jan C Pronk; A Bosma; Aldur W Eriksson; S G M Meuwissen
Pepsinogen A (I) isozymogens in normal gastric mucosa and in malignant tissue from patients with gastric cancer.
The Netherlands journal of medicine 1985;28(10):463-9.
1985: Gerard Pals; I Biemond; J Défize; B D Westerveld; Jan C Pronk; S G M Meuwissen; Aldur W Eriksson
Serum pepsinogen I levels in relation to pepsinogen phenotypes.
Progress in clinical and biological research 1985;173():91-100.
1985: Jan C Pronk; R R Frants; Gerard Pals; J Défize; S G M Meuwissen; Aldur W Eriksson
Urinary pepsinogen I: A multigene family?
Progress in clinical and biological research 1985;173():23-30.
1985: J G Goedhard; Izak Biemond; J P Giliams; Gerard Pals; J Kreuning
Serum pepsinogen I levels: assessment of gastric acid secretion?
Progress in clinical and biological research 1985;173():139-46.
1985: B D Westerveld; Gerard Pals; J Défize; Jan C Pronk; R R Frants; J Kreuning; Aldur W Eriksson; S G M Meuwissen
Qualitative and quantitative determinations of pepsinogen I in gastric cancer and premalignant changes of the stomach.
Progress in clinical and biological research 1985;173():201-12.
1985: S G M Meuwissen; H Mullink; A Bosma; Gerard Pals; J Défize; M Flipse; B D Westerveld; M Tas; J Brakké; J Kreuning
Immunocytochemical localization of pepsinogen I and II in the human stomach.
Progress in clinical and biological research 1985;173():185-97.
1985: J Défize; Gerard Pals; R R Frants; B D Westerveld; S G M Meuwissen; Aldur W Eriksson
Pepsinogen synthesis and secretion by isolated gastric glands.
Progress in clinical and biological research 1985;173():147-57.
1985: Izak Biemond; Gerard Pals; J P Giliams; J Kreuning; A S Peña
Enzyme linked immunosorbent assay of pepsinogen I.
Progress in clinical and biological research 1985;173():55-65.
1984: H P M Festen; Jacob C Thijs; C B Lamers; J M Jansen; Gerard Pals; R R Frants; J Défize; S G M Meuwissen
Effect of oral omeprazole on serum gastrin and serum pepsinogen I levels.
Gastroenterology 1984;87(5):1030-4.
1984: J Défize; Gerard Pals; R R Frants; B D Westerveld; S G M Meuwissen; A W Erkisson
Pepsinogen synthesis and secretion in isolated gastric glands.
Journal of clinical pathology 1984;37(5):531-6.
1984: R R Frants; Jan C Pronk; Gerard Pals; J Defize; B D Westerveld; S G M Meuwissen; J Kreuning; Aldur W Eriksson
Genetics of urinary pepsinogen: a new hypothesis.
Human genetics 1984;65(4):385-90.