1 |
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
6
61
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Basmanav FB...Betz RC
|
24387993 |
2014 |
2 |
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.
6
61
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Li M...Yao Z
|
23684010 |
2013 |
3 |
[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients].
6
61
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Hanneken S...Kruse R
|
21971768 |
2011 |
4 |
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.
6
61
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Hanneken S...Betz RC
|
20222933 |
2010 |
5 |
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
6
61
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Betz RC...Kruse R
|
16465624 |
2006 |
6 |
[Dowling-Degos disease--an autosomal dominant genetic dermatosis].
6
61
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Biltz H...Kiessling M
|
3188604 |
1988 |
7 |
Generalized solar lentigines in a patient with a history of radon exposure.
6
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Mauerer A...Hafner C
|
20664185 |
2010 |
8 |
Enhanced cytoplasmic expression of desmocollin 3 in epidermal rete ridges of Dowling-Degos syndrome.
6
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Braun-Falco M...Ring J
|
14674915 |
2003 |
9 |
Pleiotropic Role of Notch Signaling in Human Skin Diseases.
61
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Gratton R...Crovella S
|
32545758 |
2020 |
10 |
Scrotal Dowling-Degos disease caused by a novel frameshift variant in gamma-secretase subunit presenile enhancer gene.
61
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Ren J...Zeng LY
|
32478413 |
2020 |
11 |
Epidermal keratin 5 expression and distribution is under dermal influence.
61
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Cario M...Taieb A
|
31692218 |
2020 |
12 |
Novel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap?
61
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Garcovich S...Boniotto M
|
32282940 |
2020 |
13 |
A familial case of Dowling-Degos disease on the vulva.
61
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Coco V...Peris K
|
30666695 |
2019 |
14 |
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions.
61
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Atzmony L...Choate KA
|
31566882 |
2019 |
15 |
Mast cell activation in Dowling-Degos disease.
61
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Knuever J...Tantcheva-Poor I
|
31206596 |
2019 |
16 |
A case of hidradenitis suppurativa linked to trisomy 1q.
61
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Skroza N...Potenza C
|
31535764 |
2019 |
17 |
Dowling-Degos Disease - A Novel Presentation of An Uncommon Disease.
61
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Mohanty P...Acharya S
|
31544084 |
2019 |
18 |
Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature.
61
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Agut-Busquet E...Luelmo J
|
31120546 |
2019 |
19 |
Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature.
61
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Yang A...Murrell DF
|
31449063 |
2019 |
20 |
Classic dowling degos disease: a rare genodermatosis.
61
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Piccolo V...Argenziano G
|
31195785 |
2019 |
21 |
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.
61
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Ralser DJ...Betz RC
|
30414910 |
2019 |
22 |
Full ablative versus fractional ablative laser therapy for Dowling-Degos disease.
61
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Seitz AT...Kunz M
|
30281812 |
2019 |
23 |
Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring.
61
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Tod BM...Visser WI
|
31700856 |
2019 |
24 |
Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: An update.
61
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Kono M...Akiyama M
|
30692041 |
2019 |
25 |
Hidradenitis suppurativa of the nape: Description of an atypical phenotype related to severe early-onset disease in men.
61
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Agut-Busquet E...Luelmo J
|
30561771 |
2019 |
26 |
Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.
61
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Zhong W...Yang Y
|
29797344 |
2018 |
27 |
A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease.
61
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Duchatelet S...Hovnanian A
|
29569780 |
2018 |
28 |
A case of co-occurence of Dowling-Degos disease and psoriasis: association or a rarely-seen coincidence?
61
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Topaloglu Demir F...Ozkok Akbulut T
|
30518180 |
2018 |
29 |
Dowling-Degos Disease Localized on Vulva Mimicking Condyloma Acuminata.
61
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Wong LS...Yang YC
|
30504986 |
2018 |
30 |
Vesicular variant of Dowling-Degos disease.
61
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Linke M...Geraud C
|
29931677 |
2018 |
31 |
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
61
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Takeuchi H...Haltiwanger RS
|
29452367 |
2018 |
32 |
Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease.
61
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Virmani N...Scaria V
|
29600799 |
2018 |
33 |
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors.
61
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Pavlovsky M...Sprecher E
|
29274076 |
2018 |
34 |
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder.
61
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Gonzalez-Villanueva I...Pascual JC
|
29274243 |
2018 |
35 |
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.
61
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Pavlovsky M...Sprecher E
|
28922471 |
2018 |
36 |
Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'.
61
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McGrath JA
|
29441533 |
2018 |
37 |
Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene.
61
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Yu W...Jiang Y
|
28646612 |
2018 |
38 |
Generalized Dowling-Degos disease with hypopigmented lesions: A diagnostic challenge.
61
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Ghosh A...Das A
|
29176251 |
2018 |
39 |
[Mutations in presenilin in Dowling-Degos disease: Association with follicular occlusion disorder and the notch-signalling pathway].
61
|
Dereure O
|
29100615 |
2017 |
40 |
Galli-Galli Disease Presenting as a Lentigo-like Eruption: A Further Clinical Feature in the Wide Spectrum of Reticulate Pigment Disorders.
61
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Paolino G...Donati P
|
30064605 |
2017 |
41 |
Recognizing syndromic hidradenitis suppurativa: a review of the literature.
61
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Gasparic J...Jemec GB
|
28696038 |
2017 |
42 |
Follicular Dowling-Degos Disease: A Rare Pigmentary Dermatosis.
61
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Mahajan SH...Kharkar VD
|
29204397 |
2017 |
43 |
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?
61
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Li C...Wang B
|
28601418 |
2017 |
44 |
Updated review of genetic reticulate pigmentary disorders.
61
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Zhang J...Yao Z
|
28407215 |
2017 |
45 |
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
61
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Ralser DJ...Betz RC
|
28287404 |
2017 |
46 |
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
61
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Wilson NJ...Smith FJ
|
27479915 |
2017 |
47 |
Successful Management of Dowling-Degos Disease with Combination of Q-switched Nd: YAG and Fractional Carbon Dioxide Laser.
61
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Tambe SA...Saple DG
|
28529428 |
2017 |
48 |
Dermoscopy in General Dermatology: A Practical Overview.
61
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Errichetti E...Stinco G
|
27613297 |
2016 |
49 |
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.
61
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Zhou C...Zhang JZ
|
27900998 |
2016 |
50 |
Pathogenicity of POFUT1 mutations in two Chinese families with Dowling-Degos disease.
61
|
Li CR...Wang B
|
26486618 |
2016 |