Literature DB >> 33666332

Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.

Brenda Finucane1, Juliann M Savatt1, Hermela Shimelis1, Santhosh Girirajan2, Scott M Myers1.   

Abstract

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Year:  2021        PMID： 33666332      PMCID： PMC9540435          DOI： 10.1002/ajmg.a.62159

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.578


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  12 in total

Review 1.  Spontaneous pneumothorax.

Authors:  S A Sahn; J E Heffner
Journal:  N Engl J Med       Date:  2000-03-23       Impact factor: 91.245

Review 2.  Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

Authors:  Laura S Schmidt; W Marston Linehan
Journal:  Nat Rev Urol       Date:  2015-09-01       Impact factor: 14.432

3.  Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.

Authors:  Leila Dardour; Pieter Verleyen; Karl Lesage; Maureen Holvoet; Koen Devriendt
Journal:  Eur J Med Genet       Date:  2016-09-12       Impact factor: 2.708

4.  Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome.

Authors:  J S Roth; A D Rabinowitz; M Benson; M E Grossman
Journal:  J Am Acad Dermatol       Date:  1993-12       Impact factor: 11.527

5.  Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.

Authors:  Jorge R Toro; Stephen E Pautler; Laveta Stewart; Gladys M Glenn; Michael Weinreich; Ousmane Toure; Ming-Hui Wei; Laura S Schmidt; Lewis Davis; Berton Zbar; Peter Choyke; Seth M Steinberg; Dao M Nguyen; W Marston Linehan
Journal:  Am J Respir Crit Care Med       Date:  2007-02-22       Impact factor: 21.405

Review 6.  Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

Authors:  Sarah H Elsea; Stephen R Williams
Journal:  Expert Rev Mol Med       Date:  2011-04-19       Impact factor: 5.600

Review 7.  Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.

Authors:  Hoa T Truong; Tracy Dudding; Christopher L Blanchard; Sarah H Elsea
Journal:  BMC Med Genet       Date:  2010-10-08       Impact factor: 2.103

8.  Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Authors:  E A Edelman; S Girirajan; B Finucane; P I Patel; J R Lupski; A C M Smith; S H Elsea
Journal:  Clin Genet       Date:  2007-06       Impact factor: 4.438

Review 9.  Birt-Hogg-Dubé Syndrome.

Authors:  Nishant Gupta; Bernie Y Sunwoo; Robert M Kotloff
Journal:  Clin Chest Med       Date:  2016-06-25       Impact factor: 2.878

10.  ClinVar: improving access to variant interpretations and supporting evidence.

Authors:  Melissa J Landrum; Jennifer M Lee; Mark Benson; Garth R Brown; Chen Chao; Shanmuga Chitipiralla; Baoshan Gu; Jennifer Hart; Douglas Hoffman; Wonhee Jang; Karen Karapetyan; Kenneth Katz; Chunlei Liu; Zenith Maddipatla; Adriana Malheiro; Kurt McDaniel; Michael Ovetsky; George Riley; George Zhou; J Bradley Holmes; Brandi L Kattman; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2018-01-04       Impact factor: 16.971
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  3 in total

1.  Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.

Authors:  Brenda Finucane; Matthew T Oetjens; Alicia Johns; Scott M Myers; Ciaran Fisher; Lukas Habegger; Evan K Maxwell; Jeffrey G Reid; David H Ledbetter; H Lester Kirchner; Christa Lese Martin
Journal:  Genet Med       Date:  2021-11-18       Impact factor: 8.864

Review 2.  Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.

Authors:  Berardo Rinaldi; Roberta Villa; Alessandra Sironi; Livia Garavelli; Palma Finelli; Maria Francesca Bedeschi
Journal:  Genes (Basel)       Date:  2022-02-11       Impact factor: 4.096

3.  Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome.

Authors:  Erik Boot; Cathelijne C Linders; Sterre H Tromp; Marie-José van den Boogaard; Agnies M van Eeghen
Journal:  Am J Med Genet A       Date:  2021-06-04       Impact factor: 2.802
  3 in total

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