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Results for
""Ectodermal Dysplasia""[mesh_terms]

21 Results

Searching titles within these results

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.

Ioana Badiu Tișa, Anamaria Cozma-Petruț, Alin-Dan Chiorean, Doina Miere, Lorena Filip, Roxana Banc, Oana Mîrza, Mădălina Adriana Bordea

International journal of molecular sciences 2026;27(1):

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p63 in corneal and epidermal differentiation.

Flavia Novelli, Carlo Ganini, Gerry Melino, Carlo Nucci, Yuyi Han, Yufang Shi, Ying Wang, Eleonora Candi

Biochemical and biophysical research communications 2022;610():15-22

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Plakophilin 1: an important stabilizer of desmosomes.

A P South

Clinical and experimental dermatology 2004;29(2):161-7

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Tooth agenesis related to a novel KDF1 variant: A case report and literature review.

Thanakorn Theerapanon, Thantrira Porntaveetus, Vorasuk Shotelersuk, Lakshman Samaranayake, Narin Intarak, Chawan Manaspon, Sasiprapa Prommanee

Oral diseases 2024;30(8):5195-5202

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Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Roberta Onesimo, Valentina Giorgio, Germana Viscogliosi, Elisabetta Sforza, Eliza Kuczynska, Gaia Margiotta, Mariella Iademarco, Francesco Proli, Donato Rigante, Giuseppe Zampino, Chiara Leoni

American journal of medical genetics. Part C, Seminars in medical genetics 2023;190(4):478-493

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Characterization of a New Variant in Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.

Luigi Corsaro, Fulvio Ferrara, Carlo Santaniello, Alice Faversani, Giulia Melloni, Silvia Motta, Elena Mandorino, Davide Sacco, Sabine Stioui, Davide Barteselli, Dario De Vita, Debora Manuelli, Lucy Costantino

Genes 2024;15(5):

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Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.

Kameryn M Butler, Vahid Bahrambeigi, Allie Merrihew, Michael J Friez, Sara S Cathey

Clinical dysmorphology 2022;30(4):167-172

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The genetic basis of pachyonychia congenita.

Frances J D Smith, Haihui Liao, Andrew J Cassidy, Arlene Stewart, Kevin J Hamill, Pamela Wood, Iris Joval, Maurice A M van Steensel, Erik Björck, Faith Callif-Daley, Gerald Pals, Paul Collins, Sancy A Leachman, Colin S Munro, W H Irwin McLean

The journal of investigative dermatology. Symposium proceedings 2005;10(1):21-30

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Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.

Alessandro Terrinoni, Andrea Codispoti, Valeria Serra, Biagio Didona, Ernesto Bruno, Robert Nisticò, Michela Giustizieri, Marco Alessandrini, Elena Campione, Gerry Melino

Biochemical and biophysical research communications 2010;394(4):909-14

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Journey toward unraveling the molecular basis of hereditary hair disorders.

Yutaka Shimomura

Journal of dermatological science 2017;84(3):232-238

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Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature.

Lijie Li, Cuihua Liu, Ming Tian, Guangbo Li, Jitong Li

BMC pediatrics 2023;23(1):407

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Skeletal ciliopathies: a pattern recognition approach.

Atsuhiko Handa, Ulrika Voss, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura

Japanese journal of radiology 2020;38(3):193-206

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Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Luiza Monteavaro Mariath, Juliana Tosetto Santin, Jeanine Aparecida Frantz, Maria Juliana Rodovalho Doriqui, Lavínia Schuler-Faccini, Ana Elisa Kiszewski

Clinical genetics 2021;99(1):29-41

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A systematic review of reported cases of pachyonychia congenita tarda.

A Tatiane, D Slape, R Lawless, J W Frew

Clinical and experimental dermatology 2020;44(6):606-612

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Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

Xin Wang, Fangfang Li, Weiwei Zhao

Journal of healthcare engineering 2022;2022():7414165

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Results: 1 – 15 / 21

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Results for ""Ectodermal Dysplasia""[mesh_terms]

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.

p63 in corneal and epidermal differentiation.

Plakophilin 1: an important stabilizer of desmosomes.

Tooth agenesis related to a novel KDF1 variant: A case report and literature review.

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Characterization of a New Variant in Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.

The genetic basis of pachyonychia congenita.

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.

Journey toward unraveling the molecular basis of hereditary hair disorders.

Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature.

Skeletal ciliopathies: a pattern recognition approach.

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

A systematic review of reported cases of pachyonychia congenita tarda.

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

Results for
""Ectodermal Dysplasia""[mesh_terms]