Literature DB >> 32533910

The past and future of genetics in pulmonary disease: You can teach an old dog new tricks.

Lawrence M Nogee1, Aaron Hamvas2.   

Abstract

Entities:  

Year:  2020        PMID: 32533910      PMCID: PMC7295096          DOI: 10.1002/ppul.24669

Source DB:  PubMed          Journal:  Pediatr Pulmonol        ISSN: 1099-0496


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  15 in total

1.  A mutation in the surfactant protein C gene associated with familial interstitial lung disease.

Authors:  L M Nogee; A E Dunbar; S E Wert; F Askin; A Hamvas; J A Whitsett
Journal:  N Engl J Med       Date:  2001-02-22       Impact factor: 91.245

2.  A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.

Authors:  Lisa R Young; Gail H Deutsch; Ronald E Bokulic; Alan S Brody; Lawrence M Nogee
Journal:  Chest       Date:  2013-10       Impact factor: 9.410

3.  Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.

Authors:  Aaron Hamvas; Robin R Deterding; Susan E Wert; Frances V White; Megan K Dishop; Danielle N Alfano; Ann C Halbower; Benjamin Planer; Mark J Stephan; Derek A Uchida; Lee D Williames; Jill A Rosenfeld; Robert Roger Lebel; Lisa R Young; F Sessions Cole; Lawrence M Nogee
Journal:  Chest       Date:  2013-09       Impact factor: 9.410

Review 4.  Causative and common PHOX2B variants define a broad phenotypic spectrum.

Authors:  Tiziana Bachetti; Isabella Ceccherini
Journal:  Clin Genet       Date:  2019-08-30       Impact factor: 4.438

5.  Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.

Authors:  Patrick R Sosnay; Danieli B Salinas; Terry B White; Clement L Ren; Philip M Farrell; Karen S Raraigh; Emmanuelle Girodon; Carlo Castellani
Journal:  J Pediatr       Date:  2017-02       Impact factor: 4.406

6.  Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation.

Authors:  A E Dunbar; S E Wert; M Ikegami; J A Whitsett; A Hamvas; F V White; B Piedboeuf; C Jobin; S Guttentag; L M Nogee
Journal:  Pediatr Res       Date:  2000-09       Impact factor: 3.756

7.  Clinical, radiological and pathological features of ABCA3 mutations in children.

Authors:  M L Doan; R P Guillerman; M K Dishop; L M Nogee; C Langston; G B Mallory; M M Sockrider; L L Fan
Journal:  Thorax       Date:  2007-11-16       Impact factor: 9.139

8.  Diffuse lung disease in young children: application of a novel classification scheme.

Authors:  Gail H Deutsch; Lisa R Young; Robin R Deterding; Leland L Fan; Sharon D Dell; Judy A Bean; Alan S Brody; Lawrence M Nogee; Bruce C Trapnell; Claire Langston; Eric A Albright; Frederic B Askin; Peter Baker; Pauline M Chou; Carlyne M Cool; Susan C Coventry; Ernest Cutz; Mary M Davis; Megan K Dishop; Csaba Galambos; Kathleen Patterson; William D Travis; Susan E Wert; Frances V White
Journal:  Am J Respir Crit Care Med       Date:  2007-09-20       Impact factor: 21.405

9.  COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.

Authors:  Levi B Watkin; Birthe Jessen; Wojciech Wiszniewski; Timothy J Vece; Max Jan; Youbao Sha; Maike Thamsen; Regie L P Santos-Cortez; Kwanghyuk Lee; Tomasz Gambin; Lisa R Forbes; Christopher S Law; Asbjørg Stray-Pedersen; Mickie H Cheng; Emily M Mace; Mark S Anderson; Dongfang Liu; Ling Fung Tang; Sarah K Nicholas; Karen Nahmod; George Makedonas; Debra L Canter; Pui-Yan Kwok; John Hicks; Kirk D Jones; Samantha Penney; Shalini N Jhangiani; Michael D Rosenblum; Sharon D Dell; Michael R Waterfield; Feroz R Papa; Donna M Muzny; Noah Zaitlen; Suzanne M Leal; Claudia Gonzaga-Jauregui; Eric Boerwinkle; N Tony Eissa; Richard A Gibbs; James R Lupski; Jordan S Orange; Anthony K Shum
Journal:  Nat Genet       Date:  2015-04-20       Impact factor: 38.330

10.  Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.

Authors:  Michelle M Clark; Amber Hildreth; Sergey Batalov; Yan Ding; Shimul Chowdhury; Kelly Watkins; Katarzyna Ellsworth; Brandon Camp; Cyrielle I Kint; Calum Yacoubian; Lauge Farnaes; Matthew N Bainbridge; Curtis Beebe; Joshua J A Braun; Margaret Bray; Jeanne Carroll; Julie A Cakici; Sara A Caylor; Christina Clarke; Mitchell P Creed; Jennifer Friedman; Alison Frith; Richard Gain; Mary Gaughran; Shauna George; Sheldon Gilmer; Joseph Gleeson; Jeremy Gore; Haiying Grunenwald; Raymond L Hovey; Marie L Janes; Kejia Lin; Paul D McDonagh; Kyle McBride; Patrick Mulrooney; Shareef Nahas; Daeheon Oh; Albert Oriol; Laura Puckett; Zia Rady; Martin G Reese; Julie Ryu; Lisa Salz; Erica Sanford; Lawrence Stewart; Nathaly Sweeney; Mari Tokita; Luca Van Der Kraan; Sarah White; Kristen Wigby; Brett Williams; Terence Wong; Meredith S Wright; Catherine Yamada; Peter Schols; John Reynders; Kevin Hall; David Dimmock; Narayanan Veeraraghavan; Thomas Defay; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2019-04-24       Impact factor: 19.319

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  1 in total

Review 1.  Genetic Testing for Neonatal Respiratory Disease.

Authors:  Lawrence M Nogee; Rita M Ryan
Journal:  Children (Basel)       Date:  2021-03-11
  1 in total

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