Search Results - "genetic testing"

Fatal familial hemophagocytic lymphohistiocytosis with perforin gene (PRF1) mutation and EBV-associated T-cell lymphoproliferative disorder of the thyroid by Agrima Mian, Kalpana Kumar, Seema Kaushal, Farhan Fazal, Parul Kodan, Atul Batra, Prabhat Kumar, Upendra Baitha, Pankaj Jorwal, Manish Soneja, Mehar Chand Sharma, Ashutosh Biswas

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Infantile Pompe disease with intrauterine onset: a case report and literature review by Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang

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A case of Myhre syndrome mimicking juvenile scleroderma by Barbara Jensen, Rebecca James, Ying Hong, Ebun Omoyinmi, Clarissa Pilkington, Neil J. Sebire, Kevin J. Howell, Paul A. Brogan, Despina Eleftheriou

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ANA-associated uveitis in the presence of reactivated HHV-7 infection in a patient with MBL deficiency by D. V. Maltsev, O. O. Hurzhii

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Impact of paternal age on embryology and pregnancy outcomes in the setting of a euploid single-embryo transfer with ejaculated sperm: retrospective cohort study by Brent M. Hanson, M.D, Julia G. Kim, M.D., M.P.H, Emily K. Osman, M.D, Ashley W. Tiegs, M.D, Ruth B. Lathi, M.D, Philip J. Cheng, M.D, Richard T. Scott, Jr., M.D., H.C.L.D, Jason M. Franasiak, M.D., H.C.L.D

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A case of severe malnutrition infant with neonatal onset intractable diarrhea by Youhong Fang, Youyou Luo, Jindan Yu, Jie Chen

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Case Report: Efficacy, safety, and favorable long-term outcome of early treatment with IL-1 inhibitors in a patient with chronic infantile neurological cutaneous articular (CINCA)... by Giorgio Costagliola, Sofia D'Elios, Susanna Cappelli, Francesco Massei, Giulia Maestrini, Alessandra Beni, Diego Peroni, Rita Consolini

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Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder by Christina G. Tise MD, PhD, Melinda J. Palma MD, Kristina P. Cusmano-Ozog MD, Dena R. Matalon MD

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Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer by Yanin Chavarri-Guerra, Cynthia Villarreal-Garza, Ana S Ferrigno, Alejandro Mohar, Dione Aguilar, Rosa M Alvarez-Gomez, Lenny Gallardo-Alvarado, Azucena del Toro-Valero, Gregorio Quintero-Beulo, Francisco Gutierrez-Delgado, José Luis Rodriguez-Olivares, Maria Fernanda Ochoa-Chavez, Gubidxa Gutierrez-Seymour, Danielle Castillo, Josef Herzog, Jeffrey N Weitzel

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Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis by Fabio Sirchia, Ilaria Fantasia, Agnese Feresin, Elisa Giorgio, Flavio Faletra, Denise Mordeglia, Moira Barbieri, Valentina Guida, Alessandro De Luca, Tamara Stampalija

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Dermatoscopy in the Diagnostics of Incontinentia Pigmenti Skin Lesions by Snezana Minic, Danijela Dobrosavljevic, Jovan Lalosevic, Dusan Trpinac

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Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report by Mitsuko Furuya, Hironori Kobayashi, Masaya Baba, Takaaki Ito, Reiko Tanaka, Yukio Nakatani

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A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children? by Jiayi He, Jianling Zhang, Xuesong Li, Hong Wang, Cui Feng, Feng Fang, Sainan Shu

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Allgrove syndrome and motor neuron disease by Marcos R.G. de Freitas, Marco Orsini, Alexandra Prufer de Queiroz Campos Araújo, Luiz João Abraão Jr, Gilberto Miranda Barbosa, Marcondes C. França, Luan Correia, Victor Hugo Bastos, Eduardo Trajano, Mauricio da Sant'Anna Jr

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MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years by Tomoyuki Momma, Kenji Gonda, Yoshinori Akama, Eisei Endo, Daisuke Ujiie, Shotaro Fujita, Yuko Maejima, Shoichiro Horita, Kenju Shimomura, Shigehira Saji, Koji Kono, Rei Yashima, Fumiaki Watanabe, Kokichi Sugano, Tadashi Nomizu

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Screening Children with a Family History of Central Congenital Hypoventilation Syndrome by Hina Emanuel, Kimberly Rennie, Kelly Macdonald, Aravind Yadav, Ricardo A. Mosquera

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Anthropometrics of Polish children with osteogenesis imperfecta: a single-centre retrospective cohort study by E. Jakubowska-Pietkiewicz, A. Maćkowska, J. Nowicki, E. Woźniak, Nowicki Jakub

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Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study by Shuang Hu, Xiangdong Kong

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Malignant Perivascular epithelioid cell tumour of the uterus without TFE3 gene rearrangement: a case report by Mu Xu, Jianhui Fu, Liangzhi Cai

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AB0 Hemolytic Disease of the Newborn Development in the Child with АВ (IV) Blood Group from the Mother with 0 (I) Blood Group: Clinical Case by Natalya L. Prokoptseva, Elena G. Neiman, Natalia A. Ilyenkova, Natalia Yu. Grishkevich

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