Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

by Michael T. Zimmermann, Raul A. Urrutia, Patrick R. Blackburn, Margot A. Cousin, Nicole J. Boczek, Eric W. Klee, Colleen Macmurdo, Paldeep S. Atwal
Published 2017-01-01

Efficacy of intercostal cryoneurolysis as an analgesic adjunct for chest wall pain after surgery or trauma: systematic review

by Jeff Choi, Peter I Cha, Jung Gi Min, Advait Patil, Nishita N Kothary
Published 2021-08-01

VIRTOPSY FOR STUDYING THE SUDDEN DEATH OF AN ADOLESCENT

by V. A. Klevno, Yu. V. Chumakova, O. A. Korotenko, D. I. Sandu, S. E. Dubrova
Published 2020-03-01

Intentional Lower Pole Rotation of Anatomic Breast Implants in Chest Wall Deformities

by Alice Thuerlimann, MD, Mathias Tremp, MD, Carlo M. Oranges, MD, Dirk J. Schaefer, MD, Daniel F. Kalbermatten, MD, PhD
Published 2017-12-01

Use of an Optical Scanning Device to Monitor the Progress of Noninvasive Treatments for Chest Wall Deformity: A Pilot Study

by Robert E. Kelly Jr., Robert J. Obermeyer, M. Ann Kuhn, Frazier W. Frantz, Mohammad F. Obeid, Nahom Kidane, Frederic D. McKenzie
Published 2018-12-01

Reversal of childhood idiopathic scoliosis in an adult, without surgery: a case report and literature review

by Brooks, William, Krupinski, Elizabeth, Hawes, Martha
Published 2009

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

by Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty
Published 2020-03-01

Persistent elevation of troponins in the setting of Epstein-Barr Viral infection: A Case Report

by St.Clair, Meredith, Justice, Nathaniel, Walkup, Jerry
Published 2019

A very rare cause of infantile spasms

by Margarida Silva Fonseca, Clara Vieira, Rui Chorão, Anabela Bandeira, Inês Carrilho
Published 2020-06-01

Host immune response against environmental nontuberculous mycobacteria and the risk populations of nontuberculous mycobacterial lung disease

by Chin-Chung Shu, Ming-Fang Wu, Sheng-Wei Pan, Ting-Shu Wu, Hsin-Chih Lai, Meng-Chih Lin
Published 2020-06-01

Genotype–Phenotype Correlation in Children: The Impact of <i>FBN1</i> Variants on Pediatric Marfan Care

by Veronika C. Stark, Flemming Hensen, Kerstin Kutsche, Fanny Kortüm, Jakob Olfe, Peter Wiegand, Yskert von Kodolitsch, Rainer Kozlik-Feldmann, Götz C. Müller, Thomas S. Mir
Published 2020-07-01

From clinical suspect to molecular confirmation of noonan syndrome; contribution of “best practice” genetic counseling and new technical possibilities

by Bukvic Nenad, Varvara Dora, Rossi Cesare, Felicia-Faienza Maria, Susca Francesco C., Resta Nicoletta
Published 2015-01-01

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

by Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten
Published 2018-09-01

Análise clínica e molecular em indivíduos com deficiência mental idiopática no Maranhão: diagnóstico diferencial da síndrome do X frágil

by Maria Teresa Martins Viveiros
Published 2013

Análise clínica e molecular em indivíduos com deficiência mental idiopática no Maranhão: diagnóstico diferencial da síndrome do X frágil

by Maria Teresa Martins Viveiros
Published 2013

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

by VanAllen Margot I, Costa Teresa, McLeod Ross, Dyack Sarah, Gibson William, Clarke Lorne, Chudley Albert E, Arbour Laura, Farrell Sandra A, McGillivray Barbara, Bernier Francois P, Liu Xudong, Harvard Chansonette, Qiao Ying, Tyson Christine, Yong Siu-li, Graham Gail E, MacLeod Patrick, Patel Millan S, Hurlburt Jane, Holden Jeanette JA, Lewis Suzanne ME, Rajcan-Separovic Evica
Published 2008-11-01

Characterization of a group unrelated patients with arthrogryposis multiplex congenita

by Margarita Valdés-Flores, Leonora Casas-Avila, Edgar Hernández-Zamora, Susana Kofman, Alberto Hidalgo-Bravo
Published 2016-01-01

Neurofibromatose tipo 1: aspectos radiológicos do tórax Type 1 neurofibromatosis: radiological findings of the chest

by Marcos Pontes Muniz, Antonio Soares Souza, Divanei Aparecida Bottaro Criado, José Roberto Lopes Ferraz Filho, Rafael Marinelli Brandão, Luciana Vargas Cardoso, Eny Maria Goloni Bertollo
Published 2010-06-01

High-resolution CT pulmonary findings in children with severe asthma

by Thiago Krieger Bento da Silva, Matheus Zanon, Stephan Altmayer, Gabriel Sartori Pacini, Guilherme Watte, Renato Stein, Paulo Márcio Pitrez, Bruno Hochhegger
Published 2021-01-01

Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism

by Elisa eDella Valle, Silvia eVezzani, Vincenzo eRochira, Vincenzo eRochira, Antonio Raffaele Michele Granata, Antonio Raffaele Michele Granata, Bruno eMadeo, Bruno eMadeo, Elisabetta eGenovese, Elisa ePignatti, Marco eMarino, Cesare eCarani, Cesare eCarani, Manuela eSimoni, Manuela eSimoni
Published 2013-06-01