Lista de obras - Mariluce Riegel - Dominio Público Uruguay

A cyclophilin gene marker confirming geographical differentiation of Norway spruce populations and indicating viability response on excess soil-born salinity

artículo científico publicado en 2003

A postfabrication technique for identification of prosthetic devices

artículo científico publicado en 1995

An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies.

artículo científico publicado en 2014

An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal

artículo científico publicado en 2005

Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder

artículo científico publicado en 2019

Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

artículo científico publicado en 2020

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

artículo científico publicado en 2019

Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.

artículo científico publicado en 2016

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

artículo científico publicado en 2007

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

artículo científico publicado en 2015

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.

artículo científico publicado en 2015

Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.

artículo científico publicado en 2018

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

artículo científico publicado en 2015

Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations

artículo científico publicado en 2006

Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?

artículo científico publicado en 2002

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

scientific article published on 15 November 2007

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities

artículo científico publicado en 2005

Genetic causes of intellectual disability in a birth cohort: a population-based study

artículo científico publicado en 2015

HEMOPHAGOCYTOSIS BY BLASTS IN A CHILD WITH ACUTE MONOCYTIC LEUKEMIA AFTER CHEMOTHERAPY

scientific article published on 03 July 2020

In vivo transmission of 'candidatus Phytoplasma ulmi' by Amplicephalus curtulus (Hemiptera: Cicadellidae) and its effect on ryegrass (Lolium multiflorum cv. tama).

artículo científico publicado en 2014

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

scientific article published on 10 June 2019

Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome

scientific article published on 11 April 2019

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years

artículo científico publicado en 2016

Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype.

artículo científico publicado en 2014

Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7.

artículo científico publicado en 2010

Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome

artículo científico publicado en 2009

Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?

artículo científico publicado en 2009

Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review

artículo científico publicado en 2007

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications

scientific article published on 02 August 2013

Long-term prognosis of very small premature infants

artículo científico publicado en 1995

Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1).

artículo científico publicado en 2010

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

artículo científico publicado en 2014

Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease

artículo científico publicado en 2014

Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote.

artículo científico publicado en 2008

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

artículo científico publicado en 2005

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report

scientific article published on 09 December 2010

Multipotent mesenchymal stem cells from human placenta: critical parameters for isolation and maintenance of stemness after isolation

scientific article published on 24 December 2009

Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation

artículo científico publicado en 2003

Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.

artículo científico publicado en 2004

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report ⬇️

artículo científico publicado el 1 de junio de 2011

Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q

scientific article published on 01 December 2004

Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1).

artículo científico

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome

artículo científico publicado en 2008

Pneumothorax after diagnostic pneumoperitoneum for laparoscopy

artículo científico publicado en 1952

Population medical genetics: translating science to the community

scientific article published on 11 April 2019

Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations

artículo científico publicado en 2006

Pre- and postnatal findings in trisomy 17 mosaicism

artículo científico publicado en 2006

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

artículo científico publicado en 2016

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

artículo científico publicado en 2017

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

article

Survival with trisomy 18--data from Switzerland

artículo científico publicado en 2006

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

artículo científico

The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome

artículo científico publicado en 2007

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

artículo científico publicado en 2019

Trisomy 18: changes in sex ratio during intrauterine life

artículo científico publicado en 2006

Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21.

artículo científico

Urethane and hyaluronidase; use of hyaluronidase in intramuscular administration of urethane

[Bayer sanamycin in therapy of giant follicular lymphoblastoma (Brill-Symmers' disease)]

scientific article published on 01 February 1957

[Comparative studies on the effects of triethylene melamine and x-rays on giant follicular lymphoblastoma (Brill-Symmers' disease)]

artículo científico publicado en 1955

[Cytodiagnosis of malignant tumors from effusions of serous cavities]

artículo científico publicado en 1957

[Electrophoretic differentiation of chronic hepatitis from atrophic cirrhosis]

scientific article published on 01 August 1957

[Glycosuria in Staub-Traugott test in an orally treated diabetic.]

artículo científico publicado en 1959

[Injury to the hematopoietic system after treatment with triethylene iminotriazine (TEM) in a case of Brill-Symmers disease]

scientific article published on 01 April 1954

[Oral treatment of pernicious anemia with vitamin B12 & intrinsic factor (initial & protracted treatment)]

artículo científico publicado en 1958

[Pernicious and perniciosiform anemias during the postwar period.]

scientific article published on 01 July 1950

[Phase contrast microscopy in bronchial cytology]

scientific article published on 01 January 1954

[Plasma cell leukemia after thorium X therapy, with a contribution on the nosological position of plasma cell leukemia]

scientific article published on 01 December 1956

[Results and prognosis of cystostatic therapy in hemoblastosis and malignant neoplasms]

artículo científico publicado en 1955

Lista de obras de Mariluce Riegel

A cyclophilin gene marker confirming geographical differentiation of Norway spruce populations and indicating viability response on excess soil-born salinity

A postfabrication technique for identification of prosthetic devices

An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies.

An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal

Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder

Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.

Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations

Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities

Genetic causes of intellectual disability in a birth cohort: a population-based study

HEMOPHAGOCYTOSIS BY BLASTS IN A CHILD WITH ACUTE MONOCYTIC LEUKEMIA AFTER CHEMOTHERAPY

In vivo transmission of 'candidatus Phytoplasma ulmi' by Amplicephalus curtulus (Hemiptera: Cicadellidae) and its effect on ryegrass (Lolium multiflorum cv. tama).

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome

Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years

Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype.

Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7.

Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome

Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?

Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications

Long-term prognosis of very small premature infants

Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1).

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease

Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote.

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report

Multipotent mesenchymal stem cells from human placenta: critical parameters for isolation and maintenance of stemness after isolation

Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation

Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report ⬇️

Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q

Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1).

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome

Pneumothorax after diagnostic pneumoperitoneum for laparoscopy

Population medical genetics: translating science to the community

Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations

Pre- and postnatal findings in trisomy 17 mosaicism

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

Survival with trisomy 18--data from Switzerland

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

Trisomy 18: changes in sex ratio during intrauterine life

Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21.

Urethane and hyaluronidase; use of hyaluronidase in intramuscular administration of urethane

[Bayer sanamycin in therapy of giant follicular lymphoblastoma (Brill-Symmers' disease)]

[Comparative studies on the effects of triethylene melamine and x-rays on giant follicular lymphoblastoma (Brill-Symmers' disease)]

[Cytodiagnosis of malignant tumors from effusions of serous cavities]

[Electrophoretic differentiation of chronic hepatitis from atrophic cirrhosis]

[Glycosuria in Staub-Traugott test in an orally treated diabetic.]

[Injury to the hematopoietic system after treatment with triethylene iminotriazine (TEM) in a case of Brill-Symmers disease]

[Oral treatment of pernicious anemia with vitamin B12 & intrinsic factor (initial & protracted treatment)]

[Pernicious and perniciosiform anemias during the postwar period.]

[Phase contrast microscopy in bronchial cytology]

[Plasma cell leukemia after thorium X therapy, with a contribution on the nosological position of plasma cell leukemia]

[Results and prognosis of cystostatic therapy in hemoblastosis and malignant neoplasms]