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Nonlesional atopic dermatitis skin is characterized by broad terminal differentiation defects and variable immune abnormalities

Journal of allergy and clinical immunology, 2011-04, Vol.127 (4), p.954-964.e4

2011

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Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas

Science (American Association for the Advancement of Science), 2010-12, Vol.330 (6009), p.1410-1413

2010

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A Subset of Methylated CpG Sites Differentiate Psoriatic from Normal Skin

Journal of investigative dermatology, 2012-03, Vol.132 (3), p.583-592

2012

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Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis

American journal of human genetics, 2012-05, Vol.90 (5), p.796-808

2012

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Oncogenic Mutations in GNAQ Occur Early in Uveal Melanoma

Investigative ophthalmology & visual science, 2008-12, Vol.49 (12), p.5230-5234

2008

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Reversal of atopic dermatitis with narrow-band UVB phototherapy and biomarkers for therapeutic response

Journal of allergy and clinical immunology, 2011-09, Vol.128 (3), p.583-593.e4

2011

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A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci

PLoS genetics, 2008-04, Vol.4 (3), p.e1000041-e1000041

2008

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LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6

JBMR plus, 2023-04, Vol.7 (4), p.e10717-n/a

2023

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Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity

JBMR plus, 2022-08, Vol.6 (8), p.e10663-n/a

2022

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Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2287-2293

2014

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Single-nucleotide polymorphisms in the public domain: how useful are they?

Nature genetics, 2001-04, Vol.27 (4), p.371-372

2001

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Genotyping Single-Nucleotide Polymorphisms by the Invader Assay with Dual-Color Fluorescence Polarization Detection

Clinical chemistry (Baltimore, Md.), 2001-08, Vol.47 (8), p.1373-1377

2001

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Concentrations, diffusive fluxes and toxicity of heavy metals in pore water of the Fuyang River, Haihe Basin

Ecotoxicology and environmental safety, 2016-05, Vol.127, p.80-86

2016

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Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

Human genetics, 2005-12, Vol.118 (3-4), p.466-476

2005

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Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility

Human genetics, 2003, Vol.112 (1), p.34-41

2003

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High bone mass from mutation of low-density lipoprotein receptor-related protein 6 (LRP6)

Bone (New York, N.Y.), 2020-12, Vol.141, p.115550-115550, Article 115550

2020

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New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6

Bone (New York, N.Y.), 2019-10, Vol.127, p.228-243

2019

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PSORS2 Is Due to Mutations in CARD14

American journal of human genetics, 2012-05, Vol.90 (5), p.784-795

2012

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Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder

Bone (New York, N.Y.), 2024-11, Vol.188, p.117218, Article 117218

2024

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Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK

Bone (New York, N.Y.), 2020-04, Vol.133, p.115224-115224, Article 115224

2020

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Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review

Bone (New York, N.Y.), 2018-11, Vol.116, p.321-332

2018

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Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7)

Bone (New York, N.Y.), 2020-08, Vol.137, p.115364-115364, Article 115364

2020

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Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)

Journal of bone and mineral research, 2017-04, Vol.32 (4), p.757-769

2017

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Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V

Bone (New York, N.Y.), 2021-04, Vol.145, p.115835-115835, Article 115835

2021

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Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

Bone (New York, N.Y.), 2020-03, Vol.132, p.115190-115190, Article 115190

2020

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Nonlesional atopic dermatitis skin is characterized by broad terminal differentiation defects and variable immune abnormalities

Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas

A Subset of Methylated CpG Sites Differentiate Psoriatic from Normal Skin

Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis

Oncogenic Mutations in GNAQ Occur Early in Uveal Melanoma

Reversal of atopic dermatitis with narrow-band UVB phototherapy and biomarkers for therapeutic response

A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci

LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6

Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis

Single-nucleotide polymorphisms in the public domain: how useful are they?

Genotyping Single-Nucleotide Polymorphisms by the Invader Assay with Dual-Color Fluorescence Polarization Detection

Concentrations, diffusive fluxes and toxicity of heavy metals in pore water of the Fuyang River, Haihe Basin

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility

High bone mass from mutation of low-density lipoprotein receptor-related protein 6 (LRP6)

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6

PSORS2 Is Due to Mutations in CARD14

Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7)

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)

Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

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