Camacho J - Search Results

1

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network; Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ. Barish S, et al. Among authors: camacho j. Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23. Am J Hum Genet. 2020. PMID: 33232675 Free PMC article.

2

Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.

Dugan SL, Panza E, Openshaw A, Botto LD, Camacho JA, Toydemir RM. Dugan SL, et al. Am J Med Genet A. 2018 Dec;176(12):2901-2906. doi: 10.1002/ajmg.a.40664. Epub 2018 Oct 22. Am J Med Genet A. 2018. PMID: 30346094

3

Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD. Camacho JA, et al. Pediatr Res. 2006 Oct;60(4):423-9. doi: 10.1203/01.pdr.0000238301.25938.f5. Epub 2006 Aug 28. Pediatr Res. 2006. PMID: 16940241

4

Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder.

Camacho JA, Rioseco-Camacho N, Andrade D, Porter J, Kong J. Camacho JA, et al. Mol Genet Metab. 2003 Aug;79(4):257-71. doi: 10.1016/s1096-7192(03)00105-7. Mol Genet Metab. 2003. PMID: 12948741

5

The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Camacho JA, Rioseco-Camacho N. Camacho JA, et al. Pediatr Res. 2009 Jul;66(1):35-41. doi: 10.1203/PDR.0b013e3181a283c1. Pediatr Res. 2009. PMID: 19287344

6

Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.

Tezcan K, Louie KT, Qu Y, Velasquez J, Zaldivar F, Rioseco-Camacho N, Camacho JA. Tezcan K, et al. Among authors: camacho ja. JIMD Rep. 2012;3:97-102. doi: 10.1007/8904_2011_71. Epub 2011 Sep 22. JIMD Rep. 2012. PMID: 23430880 Free PMC article.

7

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Camacho JA, et al. Nat Genet. 1999 Jun;22(2):151-8. doi: 10.1038/9658. Nat Genet. 1999. PMID: 10369256

8

First Measurement of the |t| Dependence of Incoherent J/ψ Photonuclear Production.

Acharya S, Adamová D, Adler A, Aglieri Rinella G, Agnello M, Agrawal N, Ahammed Z, Ahmad S, Ahn SU, Ahuja I, Akindinov A, Al-Turany M, Aleksandrov D, Alessandro B, Alfanda HM, Alfaro Molina R, Ali B, Alici A, Alizadehvandchali N, Alkin A, Alme J, Alocco G, Alt T, Altamura AR, Altsybeev I, Alvarado JR, Anaam MN, Andrei C, Andronic A, Anguelov V, Antinori F, Antonioli P, Apadula N, Aphecetche L, Appelshäuser H, Arata C, Arcelli S, Aresti M, Arnaldi R, Arneiro JGMCA, Arsene IC, Arslandok M, Augustinus A, Averbeck R, Azmi MD, Baba H, Badalà A, Bae J, Baek YW, Bai X, Bailhache R, Bailung Y, Balbino A, Baldisseri A, Balis B, Banerjee D, Banoo Z, Barbera R, Barile F, Barioglio L, Barlou M, Barnaföldi GG, Barnby LS, Barret V, Barreto L, Bartels C, Barth K, Bartsch E, Bastid N, Basu S, Batigne G, Battistini D, Batyunya B, Bauri D, Bazo Alba JL, Bearden IG, Beattie C, Becht P, Behera D, Belikov I, Bell Hechavarria ADC, Bellini F, Bellwied R, Belokurova S, Bencedi G, Beole S, Bercuci A, Berdnikov Y, Berdnikova A, Bergmann L, Besoiu MG, Betev L, Bhaduri PP, Bhasin A, Bhat MA, Bhattacharjee B, Bianchi L, Bianchi N, Bielčík J, Bielčíková J, Biernat J, Bigot AP, Bilandzic A, Biro G, Biswas S, Bi… See abstract for full author list ➔ Acharya S, et al. Among authors: camacho jmm. Phys Rev Lett. 2024 Apr 19;132(16):162302. doi: 10.1103/PhysRevLett.132.162302. Phys Rev Lett. 2024. PMID: 38701458

9

Unveiling the Hidden Discrepancies Between Medicare Physician Reimbursement Rates and Inflation Across Different Surgical Specialties.

Stoffel V, Camacho JM, Heeb C, Cui S, Shim JY, Pacella SJ, Gosman AA, Reid CM. Stoffel V, et al. Among authors: camacho jm. Ann Plast Surg. 2024 May 1;92(5S Suppl 3):S340-S344. doi: 10.1097/SAP.0000000000003806. Ann Plast Surg. 2024. PMID: 38689416

10

Addressing the Rhino in the Room: ChatGPT Creates "Novel" Patent Ideas for Rhinoplasty.

Najafali D, Galbraith LG, Camacho JM, Arnold SH, Alperovich M, King TW, Cohen MS, Morrison SD, Dorafshar AH. Najafali D, et al. Among authors: camacho jm. Eplasty. 2024 Mar 12;24:e13. eCollection 2024. Eplasty. 2024. PMID: 38685992 Free PMC article.

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