Results
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2281.
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2282.
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Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome. [electronic resource] by
- Zhang, April
- Duchatelet, Sabine
- Lakdawala, Nikita
- Tower, Richard L
- Diamond, Carrie
- Marathe, Kalyani
- Hill, India
- Richard, Gabriele
- Diab, Yaser
- Kirkorian, Anna Yasmine
- Watanabe, Flora
- Siegel, Dawn H
- Hovnanian, Alain
Producer: 20201103
In:
JAMA dermatology vol. 156
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2283.
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2284.
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Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. [electronic resource] by
- Torchard, D
- Blanchet-Bardon, C
- Serova, O
- Langbein, L
- Narod, S
- Janin, N
- Goguel, A F
- Bernheim, A
- Franke, W W
- Lenoir, G M
Producer: 19940425
In:
Nature genetics vol. 6
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2285.
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2286.
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2287.
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2288.
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Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. [electronic resource] by
- Mahoney, My G
- Sadowski, Sara
- Brennan, Donna
- Pikander, Pekka
- Saukko, Pekka
- Wahl, James
- Aho, Heikki
- Heikinheimo, Kristiina
- Bruckner-Tuderman, Leena
- Fertala, Andrzej
- Peltonen, Juha
- Uitto, Jouni
- Peltonen, Sirkku
Producer: 20100416
In:
The Journal of investigative dermatology vol. 130
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2289.
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2290.
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Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. [electronic resource] by
- Courcet, Jean-Benoît
- Elalaoui, Siham Chafai
- Duplomb, Laurence
- Tajir, Mariam
- Rivière, Jean-Baptiste
- Thevenon, Julien
- Gigot, Nadège
- Marle, Nathalie
- Aral, Bernard
- Duffourd, Yannis
- Sarasin, Alain
- Naim, Valeria
- Courcet-Degrolard, Emilie
- Aubriot-Lorton, Marie-Hélène
- Martin, Laurent
- Abrid, Jamal Eddin
- Thauvin, Christel
- Sefiani, Abdelaziz
- Vabres, Pierre
- Faivre, Laurence
Producer: 20160401
In:
European journal of human genetics : EJHG vol. 23
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2291.
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2292.
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Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. [electronic resource] by
- Wang, Huijun
- Cao, Xu
- Lin, Zhimiao
- Lee, Mingyang
- Jia, Xinying
- Ren, Yali
- Dai, Lanlan
- Guan, Liping
- Zhang, Jianguo
- Lin, Xuan
- Zhang, Jie
- Chen, Quan
- Feng, Cheng
- Zhou, Eray Yihui
- Yin, Jinghua
- Xu, Guiwen
- Yang, Yong
Producer: 20150824
In:
Human molecular genetics vol. 24
Availability: No items available.
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2293.
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SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene. [electronic resource] by
- Bergqvist, Christina
- Kadara, Humam
- Hamie, Lamiaa
- Nemer, Georges
- Safi, Remi
- Karouni, Mirna
- Marrouche, Nadine
- Abbas, Ossama
- Hasbani, Divina J
- Kibbi, Abdul G
- Nassar, Dany
- Shimomura, Yutaka
- Kurban, Mazen
Producer: 20180807
In:
International journal of dermatology vol. 57
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2294.
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2295.
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Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). [electronic resource] by
- Kaplan, Starr R
- Gard, Joseph J
- Protonotarios, Nikos
- Tsatsopoulou, Adalena
- Spiliopoulou, Chara
- Anastasakis, Aris
- Squarcioni, Catherine Prost
- McKenna, William J
- Thiene, Gaetano
- Basso, Cristina
- Brousse, Nicole
- Fontaine, Guy
- Saffitz, Jeffrey E
Producer: 20050705
In:
Heart rhythm vol. 1
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