Results 101 to 110 of about 434 (146)

Reticulate acropigmentation of Kitamura with café-au-lait macules: a rare case report. [PDF]

Front Med (Lausanne)
Gao B, Wang H, Fan Q, Cong L, Zhang G, Liu X.   +5 more
europepmc   +1 more source

Five Novel Mutations of RNA-specific Adenosine Deaminase Gene with Dyschromatosis Symmetrica Hereditaria

, 2007
S Yang, Y Hou, W Du, XJ Zhang, Y Shen, J Chen, M Gao, F Zhou   +7 more
core   +1 more source

Inosine: biofunctions and the roles in human diseases. [PDF]

Front Endocrinol (Lausanne)
Li F, Zhang J, Kang J, Tong X, Zhang P, Zhu Y.   +5 more
europepmc   +1 more source

Amyloidosis Cutis Dyschromica: A Rare Subtype of Primary Cutaneous Amyloidosis with Dermoscopy.

Indian J Dermatol
Priyadhashini BV, Agrawal I, Sahoo B, Mandal S.   +3 more
europepmc   +1 more source

Systemic complications of Aicardi Goutières syndrome using real-world data. [PDF]

Mol Genet Metab
Peixoto de Barcelos I, Jan AK, Modesti N, Woidill S, Gavazzi F, Isaacs D, D'Aiello R, Sevagamoorthy A, Charlton L, Pizzino A, Schmidt J, van Haren K, Keller S, Eichler F, Emrick LT, Fraser JL, Shults J, Vanderver A, Adang LA.   +18 more
europepmc   +1 more source

Mendelian randomization reveals DNA methylation-related pyroptosis genes associated with psoriasis risk. [PDF]

Clin Epigenetics
Dong W, Shi C.
europepmc   +1 more source

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations

Kono, Michihiro, Moriwaki, Shinichi, Ito, Yasutomo, Saitsu, Hirotomo, Matsumoto, Naomichi, Matsumoto, Kazuhiko, Suzuki, Yasuhiro, Suganuma, Mutsumi, Matsumoto, Fumihiro, Fujiwara, Sakuhei, Sugiura, Kazumitsu, Akiyama, Masashi, Tomita, Yasushi   +12 more
core  

Pathogenesis of a variant in the 5' untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria

Suganuma, Mutsumi, 菅沼, 睦美
core  

Identification of a Locus for Dyschromatosis Symmetrica Hereditaria at Chromosome 1q11–1q21 [PDF]

Journal of Investigative Dermatology, 2003
Dyschromatosis symmetrica hereditaria is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the face and the dorsal aspects of the extremities. The genetic basis for this disease is unknown.
Ping-Ping He, Shi-Jie Xu, Zai-Xing Wang   +2 more
exaly   +4 more sources

Dyschromatosis symmetrica hereditaria associated with neurological disorders

Journal of Dermatology, 2008
ABSTRACTDyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1). It is characterized by a mixture of hyper‐ and hypopigmented macules on the back of the hands and feet.
Taisuke Kondo, Tamio Suzuki, Shiro Itô   +2 more
exaly   +4 more sources