Detailansicht

Wissensnetz

Person

André Reis (1960-)

Arzt

Name	André Reis
Zeit	1960- (Lebensdaten)
Ort	Erlangen (Wirkungsort) Mainz (Wirkungsort) Deutschland
Geschlecht	männlich
Akademischer Grad bzw. Titel	Prof. Dr. med.
Beruf	Arzt (charakteristischer Beruf) Hochschullehrer Genetiker Humangenetiker
Beziehung	Deutsche Akademie der Naturforscher Leopoldina (Mitglied, Matrikelnummer 07181) (2007-)
Quelle	Kürschner Gelehrte (2009)
Datensatztyp	Person
GND-Nummer	11276925X
Datensatz-ID	11276925X
Beteiligt an alle anzeigen Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study Cystathionine β-synthase as novel endogenous regulator of lymphangiogenesis via modulating VEGF receptor 2 and 3 Astrogenesis in the murine dentate gyrus is a life‐long and dynamic process Astrogenesis in the murine dentate gyrus is a life‐long and dynamic process Genetic analysis of MPO variants in four psoriasis subtypes in patients from Germany Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability Evidence for genetic overlap between adult onset Still’s disease and hereditary periodic fever syndromes Exome Pool-Seq in neurodevelopmental disorders Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability Clinical validation of genetic variants associated with in vitro chemotherapy-related lymphoblastoid cell toxicity Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma Stainless Steel Plate Girders Subjected to Shear Buckling at Normal and Elevated Temperatures α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus Identifizierung und Charakterisierung der Kandidatengene FAR1, EDC3, FRRS1L und HMG20A bei Individuen mit autosomal rezessiver mentaler Retardierung Identifizierung von Genen für autosomal rezessiv vererbte Intelligenzminderung Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment Rare Copy Number Variants Are a Common Cause of Short Stature SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? The Clinical Data Intelligence Project : A smart data initiative Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus Identifizierung und Charakterisierung genetischer Ursachen bei mentaler Retardierung Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy The clinical significance of small copy number variants in neurodevelopmental disorders Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype Analyse des Gens CLIP2 als Kandidatengen für mentale Retardierung Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum Identifizierung von Genen für autosomal-rezessiv vererbte mentale Retardierung: Mutationsscreening im TUSC3-Gen und Homozygotie Kartierung zur Identifizierung neuer Genloci In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome Molekulargenetische Charakterisierung konstitutioneller chromosomaler Translokationen zur Positionsklonierung krankheitsverursachender Gene Rare Copy Number Variants Are a Common Cause of Short Stature Variants in RUNX3 contribute to susceptibility to psoriatic arthritis exhibiting further common ground with ankylosing spondylitis. Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 Identifikation und Charakterisierung neuer genetischer Risikofaktoren für komplexe Erkrankungen GPFrontend and GPGraphics: graphical analysis tools for genetic association studies Tumor necrosis factor polymorphisms in psoriatic arthritis : association with the promoter polymorphism TNF-857 independent of the PSORS1 risk allele Fragiles X-Chromosom bei Kindern mit Autistischem Syndrom

Hinweis

Die Betaversion beinhaltet noch nicht alle Funktionen und Informationen des Katalogs des DNB-Portals. Falls Sie Informationen vermissen oder ein Medium bestellen wollen, besuchen Sie bitte die entsprechende Seite im Katalog des DNB-Portals über folgenden Link:

Katalog der Deutschen Nationalbibliothek

André Reis (1960-)

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

Cystathionine β-synthase as novel endogenous regulator of lymphangiogenesis via modulating VEGF receptor 2 and 3

Astrogenesis in the murine dentate gyrus is a life‐long and dynamic process

Astrogenesis in the murine dentate gyrus is a life‐long and dynamic process

Genetic analysis of MPO variants in four psoriasis subtypes in patients from Germany

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability

Evidence for genetic overlap between adult onset Still’s disease and hereditary periodic fever syndromes

Exome Pool-Seq in neurodevelopmental disorders

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Clinical validation of genetic variants associated with in vitro chemotherapy-related lymphoblastoid cell toxicity

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

Stainless Steel Plate Girders Subjected to Shear Buckling at Normal and Elevated Temperatures

α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy

Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus

Identifizierung und Charakterisierung der Kandidatengene FAR1, EDC3, FRRS1L und HMG20A bei Individuen mit autosomal rezessiver mentaler Retardierung

Identifizierung von Genen für autosomal rezessiv vererbte Intelligenzminderung

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Rare Copy Number Variants Are a Common Cause of Short Stature

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

The Clinical Data Intelligence Project : A smart data initiative

Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis

MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects

PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus

Identifizierung und Charakterisierung genetischer Ursachen bei mentaler Retardierung

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

The clinical significance of small copy number variants in neurodevelopmental disorders

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

Analyse des Gens CLIP2 als Kandidatengen für mentale Retardierung

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

Identifizierung von Genen für autosomal-rezessiv vererbte mentale Retardierung: Mutationsscreening im TUSC3-Gen und Homozygotie Kartierung zur Identifizierung neuer Genloci

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome

Molekulargenetische Charakterisierung konstitutioneller chromosomaler Translokationen zur Positionsklonierung krankheitsverursachender Gene

Rare Copy Number Variants Are a Common Cause of Short Stature

Variants in RUNX3 contribute to susceptibility to psoriatic arthritis exhibiting further common ground with ankylosing spondylitis.

Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization

Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Identifikation und Charakterisierung neuer genetischer Risikofaktoren für komplexe Erkrankungen

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

Tumor necrosis factor polymorphisms in psoriatic arthritis : association with the promoter polymorphism TNF-857 independent of the PSORS1 risk allele

Fragiles X-Chromosom bei Kindern mit Autistischem Syndrom