PMC Articles for MedGen (Select 812615) - PMC

Select item 109528331.

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant

Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith‐Rae Dias, Krystle Standen, Carey‐Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung‐Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding‐Byth, Bekim Sadikovic, Jason Pinner, Michael F. Buckley, Tony Roscioli

Am J Med Genet C Semin Med Genet. 2023 Sep; 193(3): e32056. Published online 2023 Aug 31. doi: 10.1002/ajmg.c.32056

PMCID:: PMC10952833

Abstract Article PDF–1.9M

Select item 97782642.

ON-1 and BA-IX Are the Dominant Sub-Genotypes of Human Orthopneumovirus A&B in Riyadh, Saudi Arabia

Rasha M. Alzayed, Ibrahim M. Aziz, Asma N. Alsaleh, Gani Asa Dudin, Anwar A. Ahmed, Tajamul Hussain, Abdullah K. Alshememry, Ali M. Somily, Muslim M. Alsaadi, Fahad N. Almajhdi

Genes (Basel) 2022 Dec; 13(12): 2288. Published online 2022 Dec 5. doi: 10.3390/genes13122288

PMCID:: PMC9778264

Abstract Article PDF–3.1M

Select item 94876253.

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

Jayesh M. Bhatt, Andrew Bush, Marjo van Gerven, Andreea Nissenkorn, Michael Renke, Lian Yarlett, Malcolm Taylor, Thomy Tonia, Adilia Warris, Stefan Zielen, Shairbanu Zinna, Peter J.F.M. Merkus

Eur Respir Rev. 2015 Dec; 24(138): 565–581. doi: 10.1183/16000617.0066-2015

PMCID:: PMC9487625

Abstract Article PDF–435K

Select item 79480884.

Lung CD103⁺dendritic cells and Clec9a signaling are required for neonatal hyperoxia-induced inflammatory responses to rhinovirus infection

Tracy X. Cui, Christina T. Fulton, Alexander E. Brady, Ying-Jian Zhang, Adam M. Goldsmith, Antonia P. Popova

Am J Physiol Lung Cell Mol Physiol. 2021 Feb 1; 320(2): L193–L204. Published online 2020 Oct 28. doi: 10.1152/ajplung.00334.2019

PMCID:: PMC7948088

Abstract Article

Select item 78573535.

Detection of Respiratory Syncytial Virus or Rhinovirus Weeks After Hospitalization for Bronchiolitis and the Risk of Recurrent Wheezing

Jonathan M Mansbach, Ruth J Geller, Kohei Hasegawa, Pedro A Piedra, Vasanthi Avadhanula, James E Gern, Yury A Bochkov, Janice A Espinola, Ashley F Sullivan, Carlos A Camargo, Jr

J Infect Dis. 2021 Jan 15; 223(2): 268–277. Published online 2020 Jun 20. doi: 10.1093/infdis/jiaa348

PMCID:: PMC7857353

Abstract Article PDF–1.0M

Select item 77624076.

Unusual Longevity of Edwards Syndrome: A Case Report

Abbas Alshami, Steven Douedi, Melissa Guida, Firas Ajam, Dhaval Desai, Vincent Zales, Dawn M Calderon

Genes (Basel) 2020 Dec; 11(12): 1466. Published online 2020 Dec 7. doi: 10.3390/genes11121466

PMCID:: PMC7762407

Abstract Article PDF–1.2M

Select item 77574797.

Hypoxaemia and interstitial lung disease in an infant with hypothyroidism and hypotonia

Melodie M Lynn, Dawn Simon, Ajay S Kasi

BMJ Case Rep. 2020; 13(12): e238466. Published online 2020 Dec 22. doi: 10.1136/bcr-2020-238466

PMCID:: PMC7757479

Abstract Article PDF–291K

Select item 71082428.

Multiple simultaneous viral infections in infants with acute respiratory tract infections in Spain

Cristina Calvo, Maria Luz García-García, Carolina Blanco, Mª Carmen Vázquez, Mª Elena Frías, Pilar Pérez-Breña, Inmaculada Casas

J Clin Virol. 2008 Jul; 42(3): 268–272. Published online 2008 May 2. doi: 10.1016/j.jcv.2008.03.012

PMCID:: PMC7108242

Abstract Article PDF–202K

Select item 71072629.

Underlying Diseases and Causative Microorganisms of Recurrent Pneumonia in Children: A 13-Year Study in a University Hospital

Tuğçe Tural-Kara, Halil Özdemir, Nihan Yıldız, Bilge Aldemir Kocabaş, Tuğba Erat, Aysun Yahşi, Figen Doğu, Ercan Tutar, Erdal İnce, Ergin Çiftçi

J Trop Pediatr. 2019 Jun; 65(3): 224–230. Published online 2018 Jul 12. doi: 10.1093/tropej/fmy037

PMCID:: PMC7107262

Abstract Article PDF–116K

Select item 613458810.

Hemophagocytic lymphohistiocytosis and congenital factor VII deficiency: a case report

Xiong Wang, Ning Tang, Wei Chang, Yanjun Lu, Dengju Li

BMC Med Genet. 2018; 19: 163. Published online 2018 Sep 12. doi: 10.1186/s12881-018-0673-y

PMCID:: PMC6134588

Abstract Article PDF–1.1M

Select item 591385811.

Evaluation of the Role of stat3 in Antibody and T_H17-Mediated Responses to Pneumococcal Immunization and Infection by Use of a Mouse Model of Autosomal Dominant Hyper-IgE Syndrome

Kristin Moffitt, Elaine Cheung, John Manis, Richard Malley

Infect Immun. 2018 May; 86(5): e00024-18. Prepublished online 2018 Feb 20. Published online 2018 Apr 23. doi: 10.1128/IAI.00024-18

PMCID:: PMC5913858

Abstract Article PDF–610K

Select item 497171812.

Primary immunodeficiency associated with chromosomal aberration – an ESID survey

Ellen Schatorjé, Michiel van der Flier, Mikko Seppänen, Michael Browning, Megan Morsheimer, Stefanie Henriet, João Farela Neves, Donald Cuong Vinh, Laia Alsina, Anete Grumach, Pere Soler-Palacin, Thomas Boyce, Fatih Celmeli, Ekaterini Goudouris, Grant Hayman, Richard Herriot, Elisabeth Förster-Waldl, Markus Seidel, Annet Simons, Esther de Vries

Orphanet J Rare Dis. 2016; 11: 110. Published online 2016 Aug 2. doi: 10.1186/s13023-016-0492-1