Search details
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Article
in English
| MEDLINE | ID: mdl-37196654
2.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37598857
3.
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Mol Genet Genomics
; 298(2): 329-342, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36454308
4.
Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.
Pediatr Nephrol
; 37(11): 2657-2665, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35211789
5.
A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
BMC Neurol
; 19(1): 60, 2019 Apr 12.
Article
in English
| MEDLINE | ID: mdl-30979360
6.
Distribution of disease courses in familial vs sporadic multiple sclerosis.
Acta Neurol Scand
; 139(3): 231-237, 2019 Mar.
Article
in English
| MEDLINE | ID: mdl-30412642
7.
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.
Neurogenetics
; 19(3): 145-149, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29754261
8.
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.
Biochim Biophys Acta Mol Basis Dis
; 1863(3): 721-730, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28024938
9.
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Hum Mol Genet
; 23(23): 6163-76, 2014 Dec 01.
Article
in English
| MEDLINE | ID: mdl-24986922
10.
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.
BMC Dermatol
; 16: 3, 2016 Mar 10.
Article
in English
| MEDLINE | ID: mdl-26964878
11.
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report.
BMC Dermatol
; 16(1): 7, 2016 06 03.
Article
in English
| MEDLINE | ID: mdl-27255181
12.
Biallelic variants in GLE1 with survival beyond neonatal period.
Clin Genet
; 98(6): 622-625, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32954510
13.
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
Acta Derm Venereol
; 94(5): 531-3, 2014 09.
Article
in English
| MEDLINE | ID: mdl-24514865
14.
Quaternary epitopes of α345(IV) collagen initiate Alport post-transplant anti-GBM nephritis.
J Am Soc Nephrol
; 24(6): 889-95, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23620401
15.
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females.
Ophthalmic Genet
; : 1-8, 2024 Jan 10.
Article
in English
| MEDLINE | ID: mdl-38197426
16.
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.
BMC Med Genet
; 14: 111, 2013 Oct 24.
Article
in English
| MEDLINE | ID: mdl-24156255
17.
Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis.
Am J Med Genet A
; 161A(9): 2197-203, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23913711
18.
Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.
Nephrol Dial Transplant
; 28(3): 585-91, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23048173
19.
Ichthyosis with Confetti Inherited from a Mosaic Father.
Acta Derm Venereol
; 98(1): 130-131, 2018 01 12.
Article
in English
| MEDLINE | ID: mdl-29135017
20.
Guidelines for Genetic Testing and Management of Alport Syndrome.
Clin J Am Soc Nephrol
; 17(1): 143-154, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34930753