Zoekresultaten - "monogenism"

Central nervous system manifestations of monogenic autoinflammatory disorders and the neurotropic features of SARS-CoV-2: Drawing the parallels door Thomas Renson, Thomas Renson, Thomas Renson, Lorraine Hamiwka, Lorraine Hamiwka, Susanne Benseler, Susanne Benseler

Connect to this object online.

Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review door Yandie Li, Meiping Yu, Meiping Lu

Connect to this object online.

Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report door Robina Khan Niazi, Anette Prior Gjesing, Mette Hollensted, Christian Theil Have, Dmitrii Borisevich, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Ifrah Shafqat, Asma Gul, Torben Hansen

Connect to this object online.

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins door Jessika Johannsen, Maja Hempel, Thilo Diehl, Tobias B. Haack, Jonas Denecke

Connect to this object online.

170 Expanded carrier screening: primary prevention of recessive monogenic diseases evaluated using 1,909 chinese genome and exome sequencing data door Kit San Yeung, Fong Ting Jeffrey Chau, Ho Chung Mullin Yu, Sze-Man Clara Tang, Hon-Yin Brian Chung

Connect to this object online.

Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review door Patricia Morán-Álvarez, Alessandra Gianviti, Francesca Diomedi-Camassei, Monia Ginevrino, Fabrizio de Benedetti, Claudia Bracaglia

Connect to this object online.

Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort door Véronique Hentgen, Isabelle Koné-Paut, Alexandre Belot, Caroline Galeotti, Gilles Grateau, Aurelia Carbasse, Anne Pagnier, Pascal Pillet, Marc Delord, Michael Hofer, Sophie Georgin-Lavialle

Connect to this object online.

Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens door Maria Fasshauer, Sarah Dinges, Olga Staudacher, Mirjam Völler, Anna Stittrich, Horst von Bernuth, Horst von Bernuth, Horst von Bernuth, Horst von Bernuth, Volker Wahn, Renate Krüger

Connect to this object online.

Live birth rate is associated with oocyte yield and number of biopsied and suitable blastocysts to transfer in preimplantation genetic testing (PGT) cycles for monogenic disorders and chromosomal structural rearrangements door Jara Ben-Nagi, Benjamin Jones, Roy Naja, Ahmed Amer, Sesh Sunkara, Sioban SenGupta, Paul Serhal

Connect to this object online.

Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease door Jin Gyu Lim, Jae Sung Ko, Jung Min Ko, Hyun Young Kim, Man Jin Kim, Moon Woo Seong, Young Hun Choi, Gyeong Hoon Kang, Jaemoon Koh, Jin Soo Moon

Connect to this object online.

MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore door Clara Si Hua Tan MSc, Su Fen Ang PhD, Ester Yeoh MBBS, MRCP, M.Med, FAMS, FRCP, Bing Xing Goh MBBS, Wann Jia Loh MBBS, MRCP, M.Med, Cheuk Fan Shum MBBS, MRCSEd, M.Med (Surgery), Molly May Ping Eng MB, BCh, BAO, MRCS, FRCSI, Allen Yan Lun Liu MBChB, MRCP, Lovynn Wan Ting Chan BSc, Li Xian Goh Dip, Tavintharan Subramaniam MBBS, MRCP, FRCP, FAM, Chee Fang Sum MBBS, FRCP, FACE, FAMS, Su Chi Lim MBBS, MRCP, FRCP, FAMS, PhD

Connect to this object online.

Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country door Amna Hanif, Fizza Akbar, Salman Kirmani, Amyna Jaffarali, Ghulam Zainab, Ayesha Malik, Zeeshan Ansar, Bushra Afroze

Connect to this object online.

Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family door Ling Bai, Jing Zhuang, Changrong Zhang, Chen Lu, Xuefei Tian, Hong Jiang

Connect to this object online.

EmbryoGenetics

Onderwerpen: “…monogenic disease…”
DOAB: download the publication
DOAB: description of the publication

Systemic Autoinflammatory Diseases-Clinical Rheumatic Challenges

Onderwerpen: “…monogenic autoinflammatory syndrome…”
DOAB: download the publication
DOAB: description of the publication

Role of Genomics in the Management of Hypertension

Onderwerpen: “…monogenic hypertension…”
DOAB: download the publication
DOAB: description of the publication

Emerging Techniques in Imaging, Modelling and Visualization for Cardiovascular Diagnosis and Therapy

Onderwerpen: “…monogenic signal…”
DOAB: download the publication
DOAB: description of the publication

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center door Ja Hye Kim, Yena Lee, Yunha Choi, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

Connect to this object online.

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region door Sinem Yalçıntepe, Fatma Özgüç Çömlek, Hakan Gürkan, Selma Demir, Emine İkbal Atlı, Engin Atlı, Damla Eker, Filiz Tütüncüler Kökenli

Connect to this object online.

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency door Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du

Connect to this object online.