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1

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Low incidence of SARS-CoV-2, risk factors of mortality and the course of illness in the French national cohort of dialysis patients

Couchoud, Cécile ; Bayer, Florian ; Ayav, Carole ; [et al.]

Elsevier BV ; 2020

In: Kidney International Vol. 98, No. 6 ( 2020-12), p. 1519-1529

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In: Kidney International, Elsevier BV, Vol. 98, No. 6 ( 2020-12), p. 1519-1529

Type of Medium: Online Resource

ISSN: 0085-2538

URL: Article

DOI: 10.1016/j.kint.2020.07.042

Language: English

Publisher: Elsevier BV

Publication Date: 2020

detail.hit.zdb_id: 2007940-0

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2

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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Petzold, Friederike ; Billot, Katy ; Chen, Xiaoyi ; [et al.]

Elsevier BV ; 2023

In: Kidney International Vol. 104, No. 2 ( 2023-08), p. 378-387

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In: Kidney International, Elsevier BV, Vol. 104, No. 2 ( 2023-08), p. 378-387

Type of Medium: Online Resource

ISSN: 0085-2538

URL: Article

DOI: 10.1016/j.kint.2023.05.007

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 2007940-0

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3

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School level of children carrying a HNF1B variant or a deletion

Laliève, Fanny ; Decramer, Stéphane ; Heidet, Laurence ; [et al.]

Springer Science and Business Media LLC ; 2020

In: European Journal of Human Genetics Vol. 28, No. 1 ( 2020-01), p. 56-63

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In: European Journal of Human Genetics, Springer Science and Business Media LLC, Vol. 28, No. 1 ( 2020-01), p. 56-63

Type of Medium: Online Resource

ISSN: 1018-4813 , 1476-5438

URL: Article

DOI: 10.1038/s41431-019-0490-6

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XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 2005160-8

SSG: 12

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Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

Heidet, Laurence ; Decramer, Stéphane ; Pawtowski, Audrey ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2010

In: Clinical Journal of the American Society of Nephrology Vol. 5, No. 6 ( 2010-06), p. 1079-1090

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In: Clinical Journal of the American Society of Nephrology, Ovid Technologies (Wolters Kluwer Health), Vol. 5, No. 6 ( 2010-06), p. 1079-1090

Type of Medium: Online Resource

ISSN: 1555-9041

URL: Article

DOI: 10.2215/CJN.06810909

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2010

detail.hit.zdb_id: 2216582-4

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5

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Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence

Kachmar, Jessica ; Boyer, Olivia ; Lipska-Ziętkiewicz, Beata ; [et al.]

Elsevier BV ; 2024

In: Kidney International Reports ( 2024-1)

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In: Kidney International Reports, Elsevier BV, ( 2024-1)

Type of Medium: Online Resource

ISSN: 2468-0249

URL: Article

DOI: 10.1016/j.ekir.2024.01.005

Language: English

Publisher: Elsevier BV

Publication Date: 2024

detail.hit.zdb_id: 2887223-X

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VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease

Saei, Hassan ; Morinière, Vincent ; Heidet, Laurence ; [et al.]

Elsevier BV ; 2023

In: iScience Vol. 26, No. 7 ( 2023-07), p. 107171-

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In: iScience, Elsevier BV, Vol. 26, No. 7 ( 2023-07), p. 107171-

Type of Medium: Online Resource

ISSN: 2589-0042

URL: Article

DOI: 10.1016/j.isci.2023.107171

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 2927064-9

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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Bedin, Mathilda ; Boyer, Olivia ; Servais, Aude ; [et al.]

American Society for Clinical Investigation ; 2019

In: Journal of Clinical Investigation Vol. 130, No. 1 ( 2019-12-3), p. 335-344

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In: Journal of Clinical Investigation, American Society for Clinical Investigation, Vol. 130, No. 1 ( 2019-12-3), p. 335-344

Type of Medium: Online Resource

ISSN: 0021-9738 , 1558-8238

URL: Article

DOI: 10.1172/JCI129937

DOI: 10.1172/JCI129937DS1

DOI: 10.1172/JCI129937DS2

Language: English

Publisher: American Society for Clinical Investigation

Publication Date: 2019

detail.hit.zdb_id: 2018375-6

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8

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Clinical Reasoning: An unusual cause of multiple cranial nerve impairment

Roubeau, Vincent ; Diard-Detoeuf, Capucine ; Moriniere, Sylvain ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2012

In: Neurology Vol. 79, No. 24 ( 2012-12-11)

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In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 79, No. 24 ( 2012-12-11)

Type of Medium: Online Resource

ISSN: 0028-3878 , 1526-632X

URL: Article

DOI: 10.1212/WNL.0b013e318278b5d4

RVK:

XA 10000

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2012

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9

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Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

Audrézet, Marie-Pierre ; Corbiere, Christine ; Lebbah, Said ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2016

In: Journal of the American Society of Nephrology Vol. 27, No. 3 ( 2016-03), p. 722-729

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In: Journal of the American Society of Nephrology, Ovid Technologies (Wolters Kluwer Health), Vol. 27, No. 3 ( 2016-03), p. 722-729

Type of Medium: Online Resource

ISSN: 1046-6673

URL: Article

DOI: 10.1681/ASN.2014101051

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2016

detail.hit.zdb_id: 2029124-3

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Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

Bollée, Guillaume ; Dahan, Karin ; Flamant, Martin ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2011

In: Clinical Journal of the American Society of Nephrology Vol. 6, No. 10 ( 2011-10), p. 2429-2438

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In: Clinical Journal of the American Society of Nephrology, Ovid Technologies (Wolters Kluwer Health), Vol. 6, No. 10 ( 2011-10), p. 2429-2438

Type of Medium: Online Resource

ISSN: 1555-9041

URL: Article

DOI: 10.2215/CJN.01220211

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2011

detail.hit.zdb_id: 2216582-4

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