M. Riegel

发表

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Bernhard Steiner, E. Boltshauser, D. Bartholdi, 2008, European journal of medical genetics.

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

R. Zimmermann, A. Zisch, A. Malek, 2010, American journal of obstetrics and gynecology.

The Fate of Children with Microdeletion 22q11.2 Syndrome and Congenital Heart Defect: Clinical Course and Cardiac Outcome

A. Schinzel, M. Riegel, U. Bauersfeld, 2007, Pediatric Cardiology.

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

M. Riegel, L. D. Espirito Santo, L. M. Moreira, 2016, BioMed research international.

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

C. Berger, A. Schinzel, R. Seger, 2009, Clinical and experimental immunology.

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

C. Kim, C. Lourenço, R. Giugliani, 2019, JIMD reports.

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

B. C. Feltes, M. Riegel, Thiago Corrêa, 2019, Genetics and molecular biology.

Population medical genetics: translating science to the community

M. Saraiva-Pereira, L. Schuler‐Faccini, R. Giugliani, 2019, Genetics and molecular biology.

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

A. Schinzel, M. Riegel, I. Barišić, 2011, Croatian medical journal.

Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: a new syndrome?

R. Largo, A. Schinzel, S. Achermann, 1999, American journal of medical genetics.

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

J. Vermeesch, J. Fryns, T. Liehr, 2005, European journal of medical genetics.

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes

A. Verloes, A. Schinzel, A. Baumer, 2001, Human Genetics.

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

R. Giugliani, M. Riegel, M. Burin, 2017, Genetics and molecular biology.

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

M. Riegel, P. Cotter, R. Rosa, 2009, American journal of medical genetics. Part A.

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

S. Gimelli, V. Kučinskas, O. Zuffardi, 2007, Journal of Medical Genetics.

A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect.

T. Félix, M. Riegel, J. M. de Pina Neto, 2002, Arquivos de neuro-psiquiatria.

Esophageal stenosis in a child presenting a de novo 7q terminal deletion.

M. Riegel, R. Rosa, G. Paskulin, 2010, European journal of medical genetics.

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

G. Natalucci, A. Schinzel, A. Baumer, 2008, Prenatal diagnosis.

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

A. Schinzel, A. Baumer, M. Riegel, 2004, Journal of Medical Genetics.

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders

R. Giugliani, U. Matte, S. Leistner-Segal, 2016, Expert review of molecular diagnostics.

Maternal uniparental isodisomy 11q13→qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13→qter

A. Schinzel, D. Kotzot, M. Riegel, 2001, Journal of medical genetics.

Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2

B. C. Feltes, M. Riegel, F. Poswar, 2020, Frontiers in Genetics.

Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease

B. Schaan, L. Pellanda, M. Riegel, 2014, Pediatric Cardiology.

Molecular Screening for 22 Q 11 . 2 Deletion Syndrome in Patients With Congenital Heart Disease

B. Schaan, L. Pellanda, M. Riegel, 2014 .

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

M. I. Melaragno, R. Giugliani, I. Schwartz, 2012, American journal of medical genetics. Part A.

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

L. Moreira, M. Toralles, A. Schinzel, 2014, Molecular Cytogenetics.

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

L. Moreira, A. Schinzel, A. Baumer, 2010, American journal of medical genetics. Part A.

A supernumerary marker chromosome originating from two different regions of chromosome 18

K. Chrzanowska, A. Schinzel, M. Riegel, 2000, Journal of medical genetics.

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

C. Vargas, P. Ashton-Prolla, R. Giugliani, 2019, Genetics and molecular biology.

Diagnostic and treatment strategies in mucopolysaccharidosis VI

R. Giugliani, F. Vairo, S. Leistner-Segal, 2015, The application of clinical genetics.

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS.

R. Giugliani, F. Vairo, M. Riegel, 2018, The Lancet. Child & adolescent health.

Evaluation of genomic instability and cancer prevention

M. Riegel, S. Maluf, B. Erdtmann, 2001 .

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

M. Riegel, L. M. Moreira, C. Petter, 2019, Case reports in genetics.

Human molecular cytogenetics: From cells to nucleotides

M. Riegel, 2013, Genetics and molecular biology.

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

A. Schinzel, A. Baumer, T. Tukel, 1998, Human molecular genetics.

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

S. Schuffenhauer, K. Chrzanowska, G. Luleci, 2000, Journal of medical genetics.

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

M. Rochat, M. Riegel, Mascha K. Rochat, 2007, American journal of medical genetics. Part A.

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

M. F. Galera, M. Riegel, Thiago Corrêa, 2020, Case reports in genetics.

Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications

L. Moreira, A. Schinzel, A. Superti-Furga, 2013, American journal of medical genetics. Part A.

No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2‐p13 and 7q31‐qter in a series of non‐uniparental disomy Silver–Russell syndrome cases

A. Schinzel, A. Baumer, M. Riegel, 2003, Clinical genetics.

Prenatal diagnosis of mosaicism for a del(22)(q13)

A. Schinzel, A. Baumer, J. Wisser, 2000, Prenatal diagnosis.

De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21.

A. Baumer, M. Riegel, L. C. Peres, 2001, Genetic counseling.

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

M. F. Galera, M. Riegel, José Eduardo Vargas, 2018, BioMed research international.

Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications

A. Schinzel, C. Santos-Rebouças, M. Riegel, 2021, Genes.

chromosomal structural rearrangements characterizing interstitial deletions and duplications in the clinical practice

M. Riegel, R. Rosa, P. Zen, 2017 .

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

M. Fichera, C. Romano, M. Rocchi, 2007, Journal of Medical Genetics.

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

L. Schuler‐Faccini, T. Román, M. Riegel, 2019, Journal of Molecular Neuroscience.

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

A. Schinzel, A. Baumer, P. Hargreaves, 2005, European journal of medical genetics.

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

A. Schinzel, A. Baumer, J. Wisser, 2006, Prenatal diagnosis.

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.

A. Dufke, K. Mrasek, T. Liehr, 2008, International journal of molecular medicine.

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

A. Barros, A. Matijasevich, I. Santos, 2015, American journal of medical genetics. Part A.

Pre‐ and postnatal findings in trisomy 17 mosaicism

C. Fauth, R. Pauli, A. Schinzel, 2006, American journal of medical genetics. Part A.

Survival with trisomy 18—data from Switzerland

A. Schinzel, D. Niedrist, M. Riegel, 2006, American journal of medical genetics. Part A.

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

B. D. de Vries, M. Lees, I. Feenstra, 2006, European journal of medical genetics.

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

R. Giugliani, M. Riegel, J. C. Leite, 2015, Jornal de pediatria.

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

L. Brečević, A. Schinzel, M. Riegel, 1999, American journal of medical genetics.

Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma.

T. Félix, L. Schüler-Faccini, I. Schwartz, 2002, Clinical dysmorphology.

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

M. Riegel, G. Paskulin, C. Graziadio, 2011, European journal of medical genetics.

Network‐based analysis using chromosomal microdeletion syndromes as a model

B. C. Feltes, A. Schinzel, M. Riegel, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects

M. Riegel, J. Huber, Rafaella Mergener, 2015, BioMed research international.

The Contribution of Molecular Techniques in Prenatal Diagnosis and Post mortem Fetus with Multiple Malformation

M. Sanseverino, R. Giugliani, S. Leistner-Segal, 2011 .

Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2

A. Schinzel, S. Fokstuen, A. Baumer, 2001, European Journal of Pediatrics.

Trisomy 18: Changes in sex ratio during intrauterine life

V. Rousson, A. Schinzel, D. Niedrist, 2006, American journal of medical genetics. Part A.

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

L. Daudt, M. Riegel, Fabiane Spagnol, 2020, Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo.

New microdeletion and microduplication syndromes: A comprehensive review

P. Lapunzina, J. Nevado, R. Mena, 2013, Genetics and molecular biology.

Epilepsy and trisomy 19q—different seizure patterns in a brother and a sister

A. Siegel, A. Schinzel, T. Dorn, 2001, Epilepsy Research.

formationchromosomes. Clues to the mechanisms of are present in a proportion of ring Duplications in addition to terminal deletions

S. Perrotta, V. Kučinskas, A. Schinzel, 2007 .

New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl.

M. Riegel, L. M. Freitas, F. A. F. Gusmão, 2003, Birth defects research. Part A, Clinical and molecular teratology.

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

B. Horsthemke, D. Bartholdi, A. Schinzel, 2005, European Journal of Human Genetics.

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

A. Zankl, T. Dorn, J. Lemke, 2009, Seizure.

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).

E. Morava, A. Schinzel, M. Riegel, 2002, American journal of medical genetics.

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

J. Süss, A. Schinzel, A. Baumer, 2005, American journal of medical genetics. Part A.

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

A. Schinzel, M. Riegel, D. Ortolan, 2003, American journal of medical genetics. Part A.

Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus

A. Schinzel, A. Baumer, M. Riegel, 2002, Prenatal diagnosis.

Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects

R. Giugliani, F. Vairo, D. Horovitz, 2018, Expert Opinion on Orphan Drugs.

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

F. Barros, A. Barros, A. Matijasevich, 2016, Public Health Genomics.

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity

M. Saraiva-Pereira, I. Schwartz, M. Riegel, 2012, Genetics and molecular biology.

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

R. Giugliani, S. Pena, F. Vairo, 2016, Orphanet Journal of Rare Diseases.

Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies.

E. Morava, A. Schinzel, M. Riegel, 2001, American journal of medical genetics.

Optimization of the culturing conditions of human umbilical cord blood‐derived endothelial colony‐forming cells under xeno‐free conditions applying a transcriptomic approach

M. Harmsen, S. Zoller, A. Sachinidis, 2010, Genes to cells : devoted to molecular & cellular mechanisms.

Assignment1 of the gene encoding the neuronal multidomain serine protease neurotrypsin (PRSS12) to human chromosome band 4q25→q26 by in situ hybridization

P. Sonderegger, A. Schinzel, S. Kozlov, 1999, Cytogenetic and Genome Research.

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

L. Schuler‐Faccini, T. Román, M. Riegel, 2019, Journal of Molecular Neuroscience.

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

N. Blau, J. Jaeken, B. Thöny, 2000, Human mutation.

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

L. Brečević, A. Schinzel, M. Riegel, 2011, European journal of medical genetics.

Opitz “C” trigonocephaly‐like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q

E. Morava, M. Riegel, G. Kosztolányi, 2004, American journal of medical genetics. Part A.

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

K. Rufibach, Bernhard Steiner, A. Schinzel, 2015, European Journal of Human Genetics.

Optimization of the culturing conditions of human umbilical cord blood‐derived endothelial colony‐forming cells under xeno‐free conditions applying a transcriptomic approach

M. Harmsen, S. Zoller, A. Sachinidis, 2010, Genes to Cells.

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

K. Rufibach, Bernhard Steiner, A. Schinzel, 2014, European Journal of Human Genetics.

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

M. Riegel, L. M. Moreira, Layla D Espirito Santo, 2016, BioMed research international.

New microdeletion and microduplication syndromes: A comprehensive review

P. Lapunzina, J. Nevado, R. Mena, 2013, Genetics and molecular biology.