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Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 927, doi. 10.1002/ajmg.a.61126
- By:
- Publication type:
- Article
Basan gets a new fingerprint: Mutations in the skin‐specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2451, doi. 10.1002/ajmg.a.40485
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- Publication type:
- Article
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 6, p. 579, doi. 10.1038/ng1358
- By:
- Publication type:
- Article
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
- Published in:
- Nature Genetics, 2001, v. 29, n. 2, p. 134, doi. 10.1038/ng716
- By:
- Publication type:
- Article
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Identification of a recurrent mutation inGALNT3demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
- Published in:
- 2005
- By:
- Publication type:
- Correction Notice
Identification of a recurrent mutation inGALNT3demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
- Published in:
- Journal of Molecular Medicine, 2005, v. 83, n. 1, p. 33, doi. 10.1007/s00109-004-0610-8
- By:
- Publication type:
- Article
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 261, doi. 10.1007/s00439-005-0026-8
- By:
- Publication type:
- Article
The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 321, doi. 10.1007/s004390051045
- By:
- Publication type:
- Article
Netherton Syndrome with Extensive Skin Peeling and Failure to Thrive due to a Homozygous Frameshift Mutation in SPINK5.
- Published in:
- Dermatology (10188665), 2005, v. 210, n. 4, p. 308, doi. 10.1159/000084755
- By:
- Publication type:
- Article
Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.
- Published in:
- Journal of Genetic Counseling, 2016, v. 25, n. 2, p. 337, doi. 10.1007/s10897-015-9876-y
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- Publication type:
- Article
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 5, p. 1062, doi. 10.1111/epi.14074
- By:
- Publication type:
- Article
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.
- Published in:
- Pediatric Dermatology, 2017, v. 34, n. 5, p. e245, doi. 10.1111/pde.13227
- By:
- Publication type:
- Article
A Report of GJB2 (N14K) Connexin 26 Mutation in Two Patients—A New Subtype of KID Syndrome?
- Published in:
- Pediatric Dermatology, 2008, v. 25, n. 5, p. 535, doi. 10.1111/j.1525-1470.2008.00767.x
- By:
- Publication type:
- Article
KRT14 Haploinsufficiency Results in Increased Susceptibility of Keratinocytes to TNF-α-Induced Apoptosis and Causes Naegeli–Franceschetti–Jadassohn Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 6, p. 1517, doi. 10.1038/sj.jid.5701187
- By:
- Publication type:
- Article
Normophosphatemic Familial Tumoral Calcinosis Is Caused by Deleterious Mutations in SAMD9, Encoding a TNF-α Responsive Protein.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 6, p. 1423, doi. 10.1038/sj.jid.5701203
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- Publication type:
- Article
Gap Junctions: Basic Structure and Function.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 11, p. 2516, doi. 10.1038/sj.jid.5700770
- By:
- Publication type:
- Article
Consequences of Depleted SERCA2-Gated Calcium Stores in the Skin.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 4, p. 721, doi. 10.1038/sj.jid.5700091
- By:
- Publication type:
- Article
Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 4, p. 777, doi. 10.1038/sj.jid.5700163
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- Publication type:
- Article
A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma of the Ichthyosis Hystrix Curth–Macklin Type.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 1, p. 79, doi. 10.1038/sj.jid.5700025
- By:
- Publication type:
- Article
LEKTI Is Localized in Lamellar Granules, Separated from KLK5 and KLK7, and Is Secreted in the Extracellular Spaces of the Superficial Stratum Granulosum.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 124, n. 2, p. 360, doi. 10.1111/j.0022-202X.2004.23583.x
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- Publication type:
- Article
In This Issue: The Complexity of Genetics in Heritable Skin Diseases.
- Published in:
- 2005
- By:
- Publication type:
- Other
Expanding The Phenotypic Spectrum of Cx26 Disorders: Bart–Pumphrey Syndrome is Caused by a Novel Missense Mutation in GJB2.
- Published in:
- Journal of Investigative Dermatology, 2004, v. 123, n. 5, p. 856, doi. 10.1111/j.0022-202X.2004.23470.x
- By:
- Publication type:
- Article
Genetic Heterogeneity of KID Syndrome: Identification of a Cx30 Gene ( GJB6) Mutation in a Patient with KID Syndrome and Congenital Atrichia.
- Published in:
- Journal of Investigative Dermatology, 2004, v. 122, n. 5, p. 1108, doi. 10.1111/j.0022-202X.2004.22518.x
- By:
- Publication type:
- Article
MUTATION REPORT Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy.
- Published in:
- 2003
- By:
- Publication type:
- Letter
LETTER TO THE EDITOR A Novel GJB2 (Connexin 26) Mutation, F142L, in a Patient with Unusual Mucocutaneous Findings and Deafness.
- Published in:
- 2003
- By:
- Publication type:
- Letter
HERITABLE SKIN DISORDERS--NOVEL MUTATIONS AND SPECTRUM OF PHENOTYPES.
- Published in:
- 2003
- By:
- Publication type:
- Editorial
Epidermolytic yperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 120, n. 4, p. 623, doi. 10.1046/j.1523-1747.2003.12084.x
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- Publication type:
- Article
Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3)and Genotype--Phenotype Correlations.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 120, n. 4, p. 601, doi. 10.1046/j.1523-1747.2003.12080.x
- By:
- Publication type:
- Article
In Vivo Studies of Mutant Keratin 1 in Ichthyosis Hystrix Curth–Macklin.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 120, n. 3, p. 498, doi. 10.1046/j.1523-1747.2003.12064.x
- By:
- Publication type:
- Article
A Missense Mutation in CDH3, Encoding P-Cadherin, Causes Hypotrichosis with Juvenile Macular Dystrophy.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 119, n. 5, p. 1210, doi. 10.1046/j.1523-1747.2002.19528.x
- By:
- Publication type:
- Article
Refined Mapping of Naegeli–Franceschetti– Jadassohn Syndrome to a 6 cM Interval on Chromosome 17q11.2-q21 and Investigation of Candidate Genes.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 119, n. 3, p. 692, doi. 10.1046/j.1523-1747.2002.01855.x
- By:
- Publication type:
- Article
In this Issue.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 4, p. 821, doi. 10.1046/j.1523-1747.2001.iti174.x
- By:
- Publication type:
- Article
Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 116, n. 4, p. 511, doi. 10.1046/j.1523-1747.2001.01292.x
- By:
- Publication type:
- Article
Netherton Syndrome is Not Linked to 18q12, a Region Homologous to the Murine Lanceolate Hair (lah) Locus.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 114, n. 4, p. 741, doi. 10.1046/j.1523-1747.2000.00932-3.x
- By:
- Publication type:
- Article
Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 114, n. 2, p. 381, doi. 10.1046/j.1523-1747.2000.00880.x
- By:
- Publication type:
- Article
Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.
- Published in:
- Dermatologic Therapy, 2013, v. 26, n. 1, p. 55, doi. 10.1111/j.1529-8019.2012.01553.x
- By:
- Publication type:
- Article
Fine Mapping of the Darier's Disease Locus on Chromosome 12q.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, n. 5, p. 665, doi. 10.1111/1523-1747.ep12398429
- By:
- Publication type:
- Article
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2538, doi. 10.1002/ajmg.a.34198
- By:
- Publication type:
- Article
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1837, doi. 10.1002/humu.24443
- By:
- Publication type:
- Article
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1183, doi. 10.1002/humu.24391
- By:
- Publication type:
- Article
Mutations and polymorphisms of the skeletal muscle α-actin gene ( ACTA1).
- Published in:
- 2009
- By:
- Publication type:
- Other
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
- Published in:
- Nature Genetics, 1998, v. 20, n. 4, p. 366, doi. 10.1038/3840
- By:
- Publication type:
- Article
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 10, p. 1, doi. 10.1371/journal.pgen.1009848
- By:
- Publication type:
- Article