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Epidermolysis Bullosa with Pyloric Atresia

Dermatologic clinics, 2010, Vol.28 (1), p.43-54

2010

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Progress in Heritable Skin Diseases: Translational Implications of Mutation Analysis and Prospects of Molecular Therapies

Acta dermato-venereologica, 2009, Vol.89 (3), p.228-235

UITTO, Jouni

2009

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Progress in epidermolysis bullosa: Genetic classification and clinical implications

American journal of medical genetics. Part C, Seminars in medical genetics, 2004-11, Vol.131C (1), p.61-74

2004

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Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study

Experimental dermatology, 2008-03, Vol.17 (3), p.203-207

2008

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Pseudoxanthoma elasticum: genetic diagnostic markers

Expert opinion on medical diagnostics, 2008-01, Vol.2 (1), p.63-79

2008

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Zebrafish as a model system to study heritable skin diseases

Methods in molecular biology (Clifton, N.J.), 2013, Vol.961, p.411

2013

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Reduced skin thickness: a new minor diagnostic criterion for the classical and hypermobility types of Ehlers-Danlos syndrome

British journal of dermatology (1951), 2003-10, Vol.149 (4), p.850-852

2003

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Hemidesmosomal variants of epidermolysis bullosa

Experimental dermatology, 1998-06, Vol.7 (2-3), p.46-64

1998

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Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics

Experimental dermatology, 1999-04, Vol.8 (2), p.92-95

Uitto, J.

1999

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Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2015-03, Vol.169C (1), p.6-22

2015

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Combined analysis of keratinocyte cancers identifies novel genome-wide loci

Human molecular genetics, 2019-09, Vol.28 (18), p.3148-3160

2019

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Phenome-wide heritability analysis of the UK Biobank

PLoS genetics, 2017-04, Vol.13 (4), p.e1006711-e1006711

2017

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Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits

PLoS genetics, 2010-09, Vol.6 (9), p.e1001139-e1001139

2010

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Connective tissue disorders and eye: A review and recent updates

Indian journal of ophthalmology, 2023-06, Vol.71 (6), p.2385-2398

2023

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Efficient variance components analysis across millions of genomes

Nature communications, 2020-08, Vol.11 (1), p.4020-4020, Article 4020

2020

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The effect of parental allergy on childhood allergic diseases depends on the sex of the child

Journal of allergy and clinical immunology, 2012-08, Vol.130 (2), p.427-434.e6

2012

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Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing

Archives of Dermatological Research, 2019-05, Vol.311 (4), p.265-275

2019

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Next‐generation sequencing and analysis of consecutive patients referred for connective tissue disorders

American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3016-3023

2022

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Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.552-560

2019

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Pigmentary traits, family history of melanoma and the risk of endometriosis: a cohort study of US women

International journal of epidemiology, 2014-02, Vol.43 (1), p.255-263

2014

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Structural equation modeling for hypertension and type 2 diabetes based on multiple SNPs and multiple phenotypes

PloS one, 2019-09, Vol.14 (9), p.e0217189

2019

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Indirect genetic effects and housing conditions in relation to aggressive behaviour in pigs

PloS one, 2013-06, Vol.8 (6), p.e65136

2013

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Suitability of traits related to aggression and handleability for integration into pig breeding programmes: Genetic parameters and comparison between Gaussian and binary trait specifications

PloS one, 2018-12, Vol.13 (12), p.e0204211-e0204211

2018

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Heritability of responses to painful stimuli in women: a classical twin study

Brain (London, England : 1878), 2007-11, Vol.130 (11), p.3041-3049

2007

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Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

Nature genetics, 2008-11, Vol.40 (11), p.1313-1318

2008

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Epidermolysis Bullosa with Pyloric Atresia

Progress in Heritable Skin Diseases: Translational Implications of Mutation Analysis and Prospects of Molecular Therapies

Progress in epidermolysis bullosa: Genetic classification and clinical implications

Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study

Pseudoxanthoma elasticum: genetic diagnostic markers

Zebrafish as a model system to study heritable skin diseases

Reduced skin thickness: a new minor diagnostic criterion for the classical and hypermobility types of Ehlers-Danlos syndrome

Hemidesmosomal variants of epidermolysis bullosa

Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

Combined analysis of keratinocyte cancers identifies novel genome-wide loci

Phenome-wide heritability analysis of the UK Biobank

Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits

Connective tissue disorders and eye: A review and recent updates

Efficient variance components analysis across millions of genomes

The effect of parental allergy on childhood allergic diseases depends on the sex of the child

Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing

Next‐generation sequencing and analysis of consecutive patients referred for connective tissue disorders

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization

Pigmentary traits, family history of melanoma and the risk of endometriosis: a cohort study of US women

Structural equation modeling for hypertension and type 2 diabetes based on multiple SNPs and multiple phenotypes

Indirect genetic effects and housing conditions in relation to aggressive behaviour in pigs

Suitability of traits related to aggression and handleability for integration into pig breeding programmes: Genetic parameters and comparison between Gaussian and binary trait specifications

Heritability of responses to painful stimuli in women: a classical twin study

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

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