Lista de obras - Gerard Pals - Dominio Público Uruguay

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.

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 1999

Anticipation in familial intracranial aneurysms in consecutive generations.

artículo científico publicado en 2003

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

artículo científico publicado en 2004

BRCA1 and BRCA2 germline mutation analysis in the Indonesian population

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Biallelic inactivation of BRCA2 in Fanconi anemia

artículo científico publicado en 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

artículo científico publicado en 2009

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

artículo científico publicado en 2015

Clinical and genetic evaluation of thirty ovarian cancer families.

artículo científico publicado en 1998

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

Complete COL1A1 allele deletions in osteogenesis imperfecta

artículo científico publicado en 2010

Compound-heterozygous Marfan syndrome

artículo científico publicado en 2008

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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 1988

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

artículo científico publicado en 2001

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2011

Ehlers-Danlos syndrome type IV

artículo científico publicado en 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.

artículo científico

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado en 1996

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

artículo científico

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

artículo científico publicado en 2015

Familial abdominal aortic aneurysms: Collection of 233 multiplex families

article

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

artículo científico publicado en 2006

Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 1993

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

artículo científico publicado en 2003

Genetic subtyping of Fanconi anemia by comprehensive mutation screening

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

Genotype impacts survival in Marfan syndrome

artículo científico publicado en 2016

Helicobacter pylori serology in patients with gastric carcinoma.

artículo científico publicado en 1993

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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

Human pepsinogen A isozymogen patterns in serum and gastric mucosa

artículo científico publicado en 1990

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

artículo científico publicado en 1989

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

artículo científico publicado en 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

artículo científico publicado en 2012

Inflammation aggravates disease severity in Marfan syndrome patients.

artículo científico publicado en 2012

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.

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2001

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

artículo científico publicado en 2005

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.

artículo científico publicado en 2010

PLS3 mutations in X-linked osteoporosis with fractures

artículo científico publicado en 2013

PPIB mutations cause severe osteogenesis imperfecta

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

artículo científico publicado en 2015

Searching for preeclampsia genes: the current position.

artículo científico publicado en 2002

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

artículo científico publicado el 1 de diciembre de 1997

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

artículo científico publicado en 2013

TGFB1 gene polymorphisms and inflammatory bowel disease

artículo científico publicado en 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.

artículo científico publicado en 2005

The glomerular sieving of pepsinogen A and C in man

artículo científico publicado en 1989

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

artículo científico publicado en 1985

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2015

The risk for type B aortic dissection in Marfan syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 1999

Type III collagen deficiency in a family with intracranial aneurysms

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico

Lista de obras de Gerard Pals

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

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.

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

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

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

Anticipation in familial intracranial aneurysms in consecutive generations.

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

BRCA1 and BRCA2 germline mutation analysis in the Indonesian population

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

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

Biallelic inactivation of BRCA2 in Fanconi anemia

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

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

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

Clinical and genetic evaluation of thirty ovarian cancer families.

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

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

Complete COL1A1 allele deletions in osteogenesis imperfecta

Compound-heterozygous Marfan syndrome

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

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

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

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

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

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

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

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

Ehlers-Danlos syndrome type IV

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

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

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

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

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

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

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

Familial abdominal aortic aneurysms: Collection of 233 multiplex families

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

Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism

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

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

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

Genetic subtyping of Fanconi anemia by comprehensive mutation screening

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

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

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

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

Genotype impacts survival in Marfan syndrome

Helicobacter pylori serology in patients with gastric carcinoma.

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

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

Human pepsinogen A isozymogen patterns in serum and gastric mucosa

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

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

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

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

Inflammation aggravates disease severity in Marfan syndrome patients.

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.

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

Intracranial hypertension in 2 children with marfan syndrome

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

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

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

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

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

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

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

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

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

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

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

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

PLS3 mutations in X-linked osteoporosis with fractures

PPIB mutations cause severe osteogenesis imperfecta

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

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

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

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