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Carsten Bergmann (1972-)

Facharzt für Humangenetik

Name	Carsten Bergmann
Time	1972- (Date of birth and death)
Place	Mönchengladbach (Geburtsort) Deutschland
Profession	Facharzt für Humangenetik (characteristic profession)
Record type	Person
GND-Identifier	12276790X
Record ID	12276790X
Involved in show all Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter = Differentiated approach and testing for rare genetic diseases in childhood and adolescence Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT) Renal and extrarenal phenotypes in patients with HNF1B variants and chromosome 17q12 microdeletions Kif21a deficiency leads to impaired glomerular filtration barrier function PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity A novel role for the chloride intracellular channel protein Clic5 in ciliary function Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter A novel role for the chloride intracellular channel protein Clic5 in ciliary function A SEC61A1 variant is associated with autosomal dominant polycystic liver disease Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects Kif21a deficiency leads to impaired glomerular filtration barrier function PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference Hyperinsulinemic hypoglycemia associated with a CaV1.2 variant with mixed gain- and loss-of-function effects Interstitial nephritis: a change in diagnosis with next-generation sequencing Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations Refining kidney survival in 383 genetically characterized patients with nephronophthisis The wind of change in the management of autosomal dominant polycystic kidney disease in childhood The wind of change in the management of autosomal dominant polycystic kidney disease in childhood Collagen IVα345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture’s and Alport diseases Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO‐TECT Alport trial The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation Nierenzysten und zystische Nierenerkrankungen bei Kindern (AWMF S2k-Leitlinie) Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry HNF1B nephropathy has a slow-progressive phenotype in childhood - with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry HNF1B nephropathy has a slow-progressive phenotype in childhood — with the exception of very early onset cases: results of the german multicenter HNF1B childhood registry International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness Management of bone disease in cystinosis: Statement from an international conference Molecular based newborn screening in Germany: follow-up for cystinosis Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants Treating C3 glomerulopathy with eculizumab A multi-layered quantitative in vivo expression atlas of the podocyte unravels Kidney disease candidate genes Genetics of autosomal recessive polycystic kidney disease and its differential diagnoses Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? : : a report of a case series The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development Treating C3 glomerulopathy with eculizumab Klinische und molekulare Charakterisierung der autosomal rezessiven polyzystischen Nierenerkrankung (ARPKD) Zur Differenzierung hereditärer sensomotorischer Neuropathien mittels Mutationsanalyse des Genbereichs für das Gap-junction-Protein Connexin32 an Paraffin-eingebetteten Suralnervenbiopsien Zur Differenzierung hereditärer sensomotorischer Neuropathien mittels Mutationsanalyse des Genbereichs für das Gap-junction-Protein Connexin32 an Paraffin-eingebetteten Suralnervenbiopsien

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Katalog der Deutschen Nationalbibliothek

Carsten Bergmann (1972-)

Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter = Differentiated approach and testing for rare genetic diseases in childhood and adolescence

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Renal and extrarenal phenotypes in patients with HNF1B variants and chromosome 17q12 microdeletions

Kif21a deficiency leads to impaired glomerular filtration barrier function

PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity

A novel role for the chloride intracellular channel protein Clic5 in ciliary function

Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter

A novel role for the chloride intracellular channel protein Clic5 in ciliary function

A SEC61A1 variant is associated with autosomal dominant polycystic liver disease

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects

Kif21a deficiency leads to impaired glomerular filtration barrier function

PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Hyperinsulinemic hypoglycemia associated with a CaV1.2 variant with mixed gain- and loss-of-function effects

Interstitial nephritis: a change in diagnosis with next-generation sequencing

Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

Refining kidney survival in 383 genetically characterized patients with nephronophthisis

The wind of change in the management of autosomal dominant polycystic kidney disease in childhood

The wind of change in the management of autosomal dominant polycystic kidney disease in childhood

Collagen IVα345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture’s and Alport diseases

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO‐TECT Alport trial

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

Nierenzysten und zystische Nierenerkrankungen bei Kindern (AWMF S2k-Leitlinie)

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial

Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation

HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry

HNF1B nephropathy has a slow-progressive phenotype in childhood - with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry

HNF1B nephropathy has a slow-progressive phenotype in childhood — with the exception of very early onset cases: results of the german multicenter HNF1B childhood registry

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness

Management of bone disease in cystinosis: Statement from an international conference

Molecular based newborn screening in Germany: follow-up for cystinosis

Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation

Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants

Treating C3 glomerulopathy with eculizumab

A multi-layered quantitative in vivo expression atlas of the podocyte unravels Kidney disease candidate genes

Genetics of autosomal recessive polycystic kidney disease and its differential diagnoses

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants

Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? : : a report of a case series

The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development

Treating C3 glomerulopathy with eculizumab

Klinische und molekulare Charakterisierung der autosomal rezessiven polyzystischen Nierenerkrankung (ARPKD)

Zur Differenzierung hereditärer sensomotorischer Neuropathien mittels Mutationsanalyse des Genbereichs für das Gap-junction-Protein Connexin32 an Paraffin-eingebetteten Suralnervenbiopsien

Zur Differenzierung hereditärer sensomotorischer Neuropathien mittels Mutationsanalyse des Genbereichs für das Gap-junction-Protein Connexin32 an Paraffin-eingebetteten Suralnervenbiopsien