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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1975 6
1976 9
1977 4
1978 9
1979 10
1980 2
1981 8
1982 6
1983 8
1984 8
1985 8
1986 7
1987 13
1988 16
1989 17
1990 8
1991 20
1992 18
1993 16
1994 19
1995 19
1996 17
1997 26
1998 28
1999 25
2000 25
2001 31
2002 41
2003 34
2004 44
2005 40
2006 30
2007 39
2008 61
2009 51
2010 56
2011 53
2012 67
2013 74
2014 99
2015 84
2016 90
2017 111
2018 119
2019 130
2020 129
2021 140
2022 112
2023 100
2024 42

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1,966 results

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Page 1
The Genetics of Pneumothorax.
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. Boone PM, et al. Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI. Am J Respir Crit Care Med. 2019. PMID: 30681372 Free PMC article. Review.
We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dube syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency, tuberous sclerosis complex/lymphangioleiomyomatosis, Loeys-Dietz syndrome, cystic fibr …
We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dube syndrome, Marfan syndrome, vascular (type IV) Eh …
One and Done? The Effectiveness of a Single Session of Physiotherapy Compared With Multiple Sessions to Reduce Pain and Improve Function and Quality of Life in Patients With a Musculoskeletal Disorder: A Systematic Review With Meta-analyses.
Dubé MO, Dillon S, Gallagher K, Ryan J, McCreesh K. Dubé MO, et al. Arch Phys Med Rehabil. 2024 Jun;105(6):1171-1180. doi: 10.1016/j.apmr.2023.09.017. Epub 2023 Oct 5. Arch Phys Med Rehabil. 2024. PMID: 37805175 Free article.
Meta-analyses with low-certainty evidence showed a significant pain improvement at 6 months in favor of multiple sessions compared with single session interventions (3 RCTs; n=1035; standardized mean difference [SMD]: 0.29; 95% CI: 0.05 to 0.53; P=.02) but this significant …
Meta-analyses with low-certainty evidence showed a significant pain improvement at 6 months in favor of multiple sessions compared with sing …
Placental Lipid Transport.
Dubé E, Desparois G, Lafond J. Dubé E, et al. Methods Mol Biol. 2018;1710:305-316. doi: 10.1007/978-1-4939-7498-6_24. Methods Mol Biol. 2018. PMID: 29197013
Birt-Hogg-Dube syndrome.
Lencastre A, Ponte P, Apetato M, Nunes L, Lestre S. Lencastre A, et al. An Bras Dermatol. 2013 Nov-Dec;88(6 Suppl 1):203-5. doi: 10.1590/abd1806-4841.20132199. An Bras Dermatol. 2013. PMID: 24346920 Free PMC article.
A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dube syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. ...
A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dube syndrome (BHDS) was corroborated by identif …
Leiomyosarcoma in Birt-Hogg-Dube Syndrome.
Bird LM, Kuo DJ, Masser-Frye D, Mo JQ, Elster JD. Bird LM, et al. J Pediatr Hematol Oncol. 2020 Mar;42(2):136-137. doi: 10.1097/MPH.0000000000001715. J Pediatr Hematol Oncol. 2020. PMID: 31929385
Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant genodermatosis characterized by benign cutaneous tumors (fibrofolliculomas, trichodiscomas, and acrochordons), basal lung cysts, pneumothoraces, and a 20% to 30% lifetime risk for renal cancer. ...This is the case of …
Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant genodermatosis characterized by benign cutaneous tumors (fibrofolliculomas, t …
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.
Park HJ, Choi YJ, Park CH, Kim TH, Lee SS, Moon DH, Lee KA, Lee SE, Park MS, Kim SY, Chang YS, Lee SJ, Jung JY, Lee JH, Lee SH, Kim T, Kim SR, Kim K, Byun MK. Park HJ, et al. Diagnostics (Basel). 2023 Jun 13;13(12):2047. doi: 10.3390/diagnostics13122047. Diagnostics (Basel). 2023. PMID: 37370942 Free PMC article.
Birt-Hogg-Dube (BHD) is a rare genetic disorder characterized by multiple lung cysts, typical skin manifestations, and renal tumors. ...According to a systematic review of 45 South Korean patients with BHD, the prevalence of pneumothorax (72.7%) was greater in South Korea …
Birt-Hogg-Dube (BHD) is a rare genetic disorder characterized by multiple lung cysts, typical skin manifestations, and renal tumors. …
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dube syndrome and familial lipomatosis.
van de Beek I, Glykofridis IE, Oosterwijk JC, van den Akker PC, Diercks GFH, Bolling MC, Waisfisz Q, Mensenkamp AR, Balk JA, Zwart R, Postma AV, Meijers-Heijboer HEJ, van Moorselaar RJA, Wolthuis RMF, Houweling AC. van de Beek I, et al. Hum Mol Genet. 2023 Mar 20;32(7):1223-1235. doi: 10.1093/hmg/ddac288. Hum Mol Genet. 2023. PMID: 36440963 Free PMC article.
Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disorder characterized by fibrofolliculomas, pulmonary cysts, pneumothoraces and renal cell carcinomas. ...By whole exome sequencing we identified a heterozygous missense variant (p.(Cys677Tyr)) in a zinc-finger …
Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disorder characterized by fibrofolliculomas, pulmonary cysts, pneumothoraces a …
Clinical and genetic features of 334 Asian patients with Birt-Hogg-Dube syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-associated pneumothorax.
Namba Y, Ebana H, Okamoto S, Kobayashi E, Kurihara M, Sekimoto Y, Tsuboshima K, Okura MK, Mitsuishi Y, Takahashi K, Seyama K. Namba Y, et al. PLoS One. 2023 Jul 25;18(7):e0289175. doi: 10.1371/journal.pone.0289175. eCollection 2023. PLoS One. 2023. PMID: 37490463 Free PMC article. Review.

The median age at the first occurrence of PTX was 32 years, which was significantly lower in males (P = 0.003) and patients without notable skin manifestations (P < 0.001). ...Among 149 patients who had their first PTX episode at least 10 years before BHDS diagno

The median age at the first occurrence of PTX was 32 years, which was significantly lower in males (P = 0.003) and patients without n …
1,966 results