Hereditary breast cancer risk gene assessment and counseling: interpretation of NCCN guidelines and Ruijin Hospital clinical practice by HAN Mengyuan, CHEN Xiaosong

Subjects: “…|breast cancer|hereditary risk gene|gene mutation|nccn guidelines|practice…”
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Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population by Dione Aguilar, María Lourdes Garza-Rodríguez, Carolina Elizabeth Muñiz-Garza, Fernando Alcorta Nuñez, Cynthia Mayte Villarreal-Garza, Oscar Vidal-Gutiérrez, Diana Cristina Pérez-Ibave, Carlos Horacio Burciaga-Flores

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HIGH-TEMPERATURE VACUUM CEMENTATION – THE RESERVE TO REDUCE THE ENERGY INTENSITY OF MANUFACTURE AND IMPROVE THE QUALITY OF TRANSMISSIONS GEARWHEELS OF HIGH-ENERGY MACHINES by A. A. Shipko, S. P. Rudenko, A. L. Valko, A. N. Chichin

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Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis by YuZhi Shi, Bin Chen, SongTao Niu, XinGao Wang, ZaiQiang Zhang

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Painting a portrait: Analysis of national health survey data for cancer genetic counseling by Monica H. Stamp, Ora K. Gordon, Christopher P. Childers, Kimberly K. Childers

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Radiation-induced impacts on mitochondrial DNA and the transgenerational genomic instability by Ryosuke Seino, Haruka Kubo, Kai Nishikubo, Hisanori Fukunaga

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Central Serous Chorioretinopathy Associated with Corticosteroid Use in a Patient with Leber Hereditary Optic Neuropathy: A Case Report by Lepsa Zoric, Aleksandra Petrovic, Vladimir Milutinovic

Subjects: “…Leber hereditary optic neuropathy (LHON)…”
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Impact of socio-demographic structure of the deaf people communities in prevalence of hereditary hearing loss by O. L. Posukh, M. S. Bady-Khoo, M. V. Zytsar, V. Yu. Mikhalskaia, S. A. Lashin, N. A. Barashkov, G. P. Romanov

Subjects: “…hereditary deafness…”
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An exploratory study to evaluate efficacy and safety of frequent Transcutaneous Electrical Stimulation for Leber Hereditary Optic Neuropathy by Fumio Takano, Kaori Ueda, Takuji Kurimoto, Mina Arai, Takayuki Nagai, Yuko Yamada-Nakanishi, Makoto Nakamura

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The adolescent experience of hereditary angioedema: a qualitative study of disease burden and treatment experience by Lynne Broderick, April Foster, Laura Tesler Waldman, Laura Bordone, Aaron Yarlas

Subjects: “…Hereditary angioedema…”
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Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps by A. S. Tsukanov, V. P. Shubin, A. M. Kuzminov, M. Kh. Toboeva, T. A. Savelyeva, V. N. Kashnikov, Yu. A. Shelygin

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Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants by Jingying Cheng, Liqiang Zhang, Jiafeng Yao, Shasha Zhao, Jin Jiang

Subjects: “…hereditary spherocytosis…”
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Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000 by Aleksandar M. Kostov, Maj-Britt Jensen, Bent Ejlertsen, Mads Thomassen, Caroline Maria Rossing, Inge S. Pedersen, Annabeth H. Petersen, Lise Lotte Christensen, Karin A.W. Wadt, Anne-Vibeke Lænkholm

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Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

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Identification of a pathogenic SDHD mutation in a Chinese family with hereditary head and neck paraganglioma: implications for genetic counseling and management by Pu Wang, Liming Gao, Wenyang Zhang, Rui Guo, Yin Xia

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Indirect treatment comparison of lanadelumab and a C1-esterase inhibitor in pediatric patients with hereditary angioedema by Maureen Watt, Rachel Goldgrub, Mia Malmenas, Katrin Haeussler

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Pulmonary arteriovenous malformation causing lung sequestration and media infarction: a case report by Raffaella Griffo, Laura V. Klotz, Laura V. Klotz, Lena Brendel, Romina Rösch, Benedikt Niedermaier, Kai Schlamp, Mark Kriegsmann, Mark Kriegsmann, Martin M. Eichhorn, Martin M. Eichhorn, Hauke Winter, Hauke Winter

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De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency by Laura Batlle-Masó, Laura Batlle-Masó, Laura Batlle-Masó, Janire Perurena-Prieto, Janire Perurena-Prieto, Janire Perurena-Prieto, Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Johana Gil-Serrano, Johana Gil-Serrano, Mar Guilarte, Mar Guilarte, Mar Guilarte, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

Subjects: “…hereditary angioedema…”
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Mitochondrial transplantation: a promising strategy for the treatment of retinal degenerative diseases by Jing Chi, Bin Fan, Yulin Li, Qing Jiao, Guang-Yu Li

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A transgenic cell line with inducible transcription for studying (CGG)n repeat expansion mechanisms by I. V. Grishchenko, A. A. Tulupov, Y. M. Rymareva, E. D. Petrovskiy, A. A. Savelov, A. M. Korostyshevskaya, Y. V. Maksimova, A. R. Shorina, E. M. Shitik, D. V. Yudkin

Subjects: “…hereditary intellectual disability…”
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