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List of works by Gerard Pals

A new BRCA1 mutation in a Filipino woman with a family history of breast and ovarian cancer

scientific article published on 01 June 1998

A novel BRCA2 mutation in an Indonesian family found with a new, rapid, and sensitive mutation detection method based on pooled denaturing gradient gel electrophoresis and targeted sequencing.

scientific article published in May 2005

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.

scientific article

A novel rapid and sensitive BRCA1/2 mutation detection method based on pooled DGGE and targeted sequencing.

scientific article published on April 2007

A rapid and sensitive approach to mutation detection using real-time polymerase chain reaction and melting curve analyses, using BRCA1 as an example

scientific article published on 01 September 1999

Anticipation in familial intracranial aneurysms in consecutive generations.

scientific article

Apparent absence of BRCA2 protein in a proportion of acute myeloid leukemia cell lines

scientific article published on 01 November 2004

BRCA1 and BRCA2 germline mutation analysis in the Indonesian population

scientific article

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

scientific article published on 22 January 2015

Betaglycan (TGFBR3) up-regulation correlates with increased TGF-β signaling in Marfan patient fibroblasts in vitro

scientific article

Biallelic inactivation of BRCA2 in Fanconi anemia

scientific article (publication date: 26 July 2002)

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

scientific article published on 01 August 1996

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

scientific article

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

scientific article

Clinical and genetic evaluation of thirty ovarian cancer families.

scientific article

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

scientific article

Comparison of multiplex ligation dependent probe amplification to immunohistochemistry for assessing HER-2/neu amplification in invasive breast cancer.

scientific article

Complete COL1A1 allele deletions in osteogenesis imperfecta

scientific article published on 01 November 2010

Compound-heterozygous Marfan syndrome

scientific article published on 27 November 2008

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

scientific article published in August 2004

Delineating genetic pathways of disease progression in head and neck squamous cell carcinoma

scientific article published on 01 July 2003

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

scientific article published on 23 January 2018

Differential expression of pepsinogen isozymogens in a patient with Barrett esophagus

Discrepancies between gastric mucosal and urinary pepsinogen A patterns and in vitro synthesis and secretion of human pepsinogen

scientific article published on 01 February 1988

Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer.

scientific article

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

scientific article

Early prenatal diagnosis of Fanconi anaemia in a twin pregnancy, using DNA analysis

scientific article published on 01 April 1996

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

scientific article

Ehlers-Danlos syndrome type IV

scientific article published in August 2000

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

scientific article published on 01 March 2003

Establishing a molecular continuum in breast cancer DNA microarrays and benign breast disease.

scientific article published on January 2002

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

scientific article published on 01 April 2002

Exhaled molecular profiles in the assessment of cystic fibrosis and primary ciliary dyskinesia.

scientific article published on 27 January 2013

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

scientific article published on November 1996

Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predisposition.

scientific article published on July 2003

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

scientific article published on 2 April 2015

Familial abdominal aortic aneurysms: Collection of 233 multiplex families

article

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

scientific article

Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism

scientific article published on 01 July 2005

Fine-mapping loss of gene architecture at the CDKN2B (p15INK4b), CDKN2A (p14ARF, p16INK4a), and MTAP genes in head and neck squamous cell carcinoma.

scientific article published on April 2006

Gastric chief cell-specific transcription of the pepsinogen A gene.

scientific article published on May 1993

Genetic linkage of candidate genes in families with abdominal aortic aneurysms?

scientific article published in August 2003

Genetic subtyping of Fanconi anemia by comprehensive mutation screening

scientific article published on 01 January 2008

Genetic variation in parotid basic proteins (Pb) in the Bozo (Mali, West Africa).

scientific article published on July 1979

Genome Scan for Familial Abdominal Aortic Aneurysm Using Sex and Family History as Covariates Suggests Genetic Heterogeneity and Identifies Linkage to Chromosome 19q13

article published in 2004

Genome-wide linkage in a large Dutch consanguineous family maps a locus for intracranial aneurysms to chromosome 2p13

scientific article published on 26 August 2004

Genome-wide linkage in three Dutch families maps a locus for abdominal aortic aneurysms to chromosome 19q13.3.

scientific article published on 01 July 2005

Genotype impacts survival in Marfan syndrome

scientific article published on 18 January 2016

Helicobacter pylori serology in patients with gastric carcinoma.

scientific article published in May 1993

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation

scientific article published on 01 December 2004

High-resolution mapping of molecular events associated with immortalization, transformation, and progression to breast cancer in the MCF10 model.

scientific article published on March 2006

Human pepsinogen A isozymogen patterns in serum and gastric mucosa

scientific article published on 01 December 1990

Human pepsinogen C (progastricsin) polymorphism: evidence for a single locus located at 6p21.1-pter

scientific article

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

scientific article published on 6 April 2007

Immunohistochemical localization of pepsinogen A and C containing cells in Barrett's oesophagus

scientific article published on 01 January 1988

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

scientific article

Inflammation aggravates disease severity in Marfan syndrome patients.

scientific article

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

Inhibition of TGFβ signaling decreases osteogenic differentiation of fibrodysplasia ossificans progressiva fibroblasts in a novel in vitro model of the disease.

scientific article published on 5 January 2016

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

scientific article published on 09 October 2020

Intracranial hypertension in 2 children with marfan syndrome

scientific article published on 19 March 2008

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings

scientific article published on 14 October 2010

Linkage and association studies of IL1B and IL1RN gene polymorphisms in preeclampsia

scientific article published on 01 January 2002

Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21

scientific article published on 01 January 1996

Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

scientific article published in Journal of Biological Chemistry

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

scientific article published on 4 September 2012

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

scientific journal article

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

article by Ingrid M B H van de Laar et al published February 2011 in Nature Genetics

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

scientific article

Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia.

scientific article

Neonatal Marfan syndrome: clinical report and review of the literature.

scientific article

Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services

scientific article published on 01 January 2003

Osteogenesis imperfecta, normal collagen folding, and lack of cyclophilin B.

scientific article published in May 2010

PLS3 mutations in X-linked osteoporosis with fractures

scientific article

PPIB mutations cause severe osteogenesis imperfecta

scientific article published on 24 September 2009

Periodontal ligament fibroblasts as a cell model to study osteogenesis and osteoclastogenesis in fibrodysplasia ossificans progressiva.

scientific article published on 10 July 2017

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

article by Ingrid M B H van de Laar et al published 13 December 2011 in Journal of Medical Genetics

Polymorphisms in the tumor necrosis factor and lymphotoxin-alpha gene region and preeclampsia

scientific article published on 01 October 2001

Purification of the pepsinogen A isozymogens by means of high resolution ion-exchange chromatography. Evidence for post-translational modifications

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

scientific article published on 15 July 2014

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation

scientific article

Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome

article

Relations between serum pepsinogen levels, pepsinogen phenotypes, ABO blood groups, age and sex in blood donors

Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome

scientific article

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

scientific article published on 6 August 2015

Searching for preeclampsia genes: the current position.

scientific article

Some patients with intracranial aneurysms have a reduced type III/type I collagen ratio ⬇️

scientific article published on December 1, 1997

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

scientific article

TGFB1 gene polymorphisms and inflammatory bowel disease

scientific article published on 01 August 2000

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

article

The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations

scientific article published on 04 October 2016

The genetic basis of pachyonychia congenita.

scientific article

The glomerular sieving of pepsinogen A and C in man

scientific article published on 01 June 1989

The influence of omeprazole on the synthesis and secretion of pepsinogen in isolated rabbit gastric glands

scientific article published on 01 October 1985

The many faces of aggressive aortic pathology: Loeys-Dietz syndrome.

scientific article published on September 2008

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

scientific article published on 18 June 2004

The revised role of TGF-β in aortic aneurysms in Marfan syndrome

scientific article

The risk for type B aortic dissection in Marfan syndrome

scientific article published in January 2015

The role of type III collagen in family members of patients with abdominal aortic aneurysms

scientific article published on 01 October 2000

The role of type III collagen in spontaneous cervical arterial dissections

scientific article published on 01 April 1998

The role of type III collagen in the development of familial abdominal aortic aneurysms

scientific article published on 01 July 1999

Type III collagen deficiency in a family with intracranial aneurysms

scientific article published on 01 January 2001

Type III collagen deficiency in saccular intracranial aneurysms. Defect in gene regulation?

scientific article published on 01 August 1999

Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta

scientific article

Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan's syndrome.

scientific article published on July 2006

Variability of fasting and post-methionine plasma homocysteine levels in normo- and hyperhomocysteinaemic individuals.

scientific article published in July 1999

Variation in gene copy number and polymorphism of the human salivary amylase isoenzyme system in Caucasians

scientific article published on 01 May 1992

X-linked inheritance of Fanconi anemia complementation group B

scientific article

[18F]NaF PET/CT scan as an early marker of heterotopic ossification in fibrodysplasia ossificans progressiva.

scientific article published on 18 August 2017

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