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Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease

Pediatric nephrology (Berlin, West), 2021-09, Vol.36 (9), p.2639-2658

2021

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Evidence-based clinical practice guidelines for polycystic kidney disease 2014

Clinical and Experimental Nephrology, 2016-08, Vol.20 (4), p.493-509

2016

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Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)

Cell and tissue research, 2006-12, Vol.326 (3), p.671-685

2006

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Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra

Molecular genetics and genomics : MGG, 2020-07, Vol.295 (4), p.923-931

2020

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Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases

Archives of gynecology and obstetrics, 2017-04, Vol.295 (4), p.897-906

2017

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ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies

Pediatric nephrology (Berlin, West), 2015-01, Vol.30 (1), p.15-30

Bergmann, Carsten

2015

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Early clinical management of autosomal recessive polycystic kidney disease

Pediatric nephrology (Berlin, West), 2021-11, Vol.36 (11), p.3561-3570

Liebau, Max Christoph

2021

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Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

Clinical and experimental nephrology, 2022-02, Vol.26 (2), p.140-153

2022

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Rationale for early treatment of polycystic kidney disease

Pediatric nephrology (Berlin, West), 2015-07, Vol.30 (7), p.1053-1062

Grantham, Jared J.

2015

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Complications and prognosis of patients diagnosed with autosomal recessive polycystic kidney disease in neonatal period

CEN case reports, 2024-06, Vol.13 (3), p.181-187

2024

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A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy

Human genetics, 2021-11, Vol.140 (11), p.1547-1552

2021

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Looking at the (w)hole: magnet resonance imaging in polycystic kidney disease

Pediatric nephrology (Berlin, West), 2013-09, Vol.28 (9), p.1771-1783

2013

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Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

Journal of clinical immunology, 2016-04, Vol.36 (3), p.204-209

2016

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Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease—different clinical entities and comparable perinatal renal abnormalities

Pediatric nephrology (Berlin, West), 2017-05, Vol.32 (5), p.791-800

2017

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Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance

Molecular biology reports, 2024-12, Vol.51 (1), p.714

2024

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Identification and fine mapping of pm5.1: a recessive gene for powdery mildew resistance in cucumber (Cucumis sativus L.)

Molecular breeding, 2015-01, Vol.35 (1), p.1-13, Article 7

2015

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Präkonzeptionsscreening

Gynäkologische Endokrinologie, 2022-05, Vol.20 (2), p.116-124

2022

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The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease

Pediatric nephrology (Berlin, West), 2010-12, Vol.25 (12), p.2449-2457

2010

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Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients

Molecular biology reports, 2022-05, Vol.49 (5), p.3911-3918

2022

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Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease—are patient-centered outcomes our blind spot?

Pediatric nephrology (Berlin, West), 2021-12, Vol.36 (12), p.3841-3851

2021

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Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

Pediatric nephrology (Berlin, West), 2014-10, Vol.29 (10), p.1915-1925

2014

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A new PDE6A missense variant p.Arg544Gln in rod–cone dystrophy

Documenta ophthalmologica, 2021-08, Vol.143 (1), p.107-114

2021

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Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review

Journal of molecular neuroscience, 2021-12, Vol.71 (12), p.2526-2533

2021

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Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China

Human genetics, 2020-04, Vol.139 (4), p.473-482

2020

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A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

Human genetics, 2018-07, Vol.137 (6-7), p.471-478

2018

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Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease

Evidence-based clinical practice guidelines for polycystic kidney disease 2014

Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)

Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies

Early clinical management of autosomal recessive polycystic kidney disease

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

Rationale for early treatment of polycystic kidney disease

Complications and prognosis of patients diagnosed with autosomal recessive polycystic kidney disease in neonatal period

A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy

Looking at the (w)hole: magnet resonance imaging in polycystic kidney disease

Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease—different clinical entities and comparable perinatal renal abnormalities

Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance

Identification and fine mapping of pm5.1: a recessive gene for powdery mildew resistance in cucumber (Cucumis sativus L.)

Präkonzeptionsscreening

The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease

Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients

Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease—are patient-centered outcomes our blind spot?

Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

A new PDE6A missense variant p.Arg544Gln in rod–cone dystrophy

Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review

Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

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