Luis Rohena

Luis Rohena

UNVERIFIED PROFILE

Are you Luis Rohena?   Register this Author

Register author
Luis Rohena

Luis Rohena

Publications by authors named "Luis Rohena"

Are you Luis Rohena?   Register this Author

26Publications

601Reads

35Profile Views

Unexpected Finding of Idiopathic REM Sleep Behavior Disorder in a Young Healthy Male With Snoring: A Case Report.

J Clin Sleep Med 2019 Sep;15(9):1369-1371

Department of Sleep Medicine, Wilford Hall Ambulatory Surgical Center, San Antonio, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5664/jcsm.7938DOI Listing
September 2019

Unexpected Finding of Idiopathic REM Sleep Behavior Disorder in a Young Healthy Male With Snoring: A Case Report.

J Clin Sleep Med 2019 Aug 19. Epub 2019 Aug 19.

Department of Sleep Medicine, Wilford Hall Ambulatory Surgical Center, San Antonio, Texas.

View Article

Download full-text PDF

Source
August 2019

Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis.

J Clin Med Res 2018 Nov 9;10(11):848-852. Epub 2018 Oct 9.

Department of Pediatrics, San Antonio Uniformed Services Health Education Consortium, San Antonio, TX, USA.

View Article

Download full-text PDF

Source
http://www.jocmr.org/index.php/JOCMR/article/view/3547
Publisher Site
http://dx.doi.org/10.14740/jocmr3547wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188024PMC
November 2018

Youngest presenting patient with dystonia 24 and review of the literature.

Clin Case Rep 2018 Nov 15;6(11):2070-2074. Epub 2018 Sep 15.

Brooke Army Medical Center San Antonio TX USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.1671DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230669PMC
November 2018

Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature.

Clin Case Rep 2018 01 29;6(1):103-108. Epub 2017 Nov 29.

Department of Pediatrics Division of Medical Genetics San Antonio Military Medical Center San Antonio Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.1114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771914PMC
January 2018

Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature.

Am J Med Genet A 2017 Jun 10;173(6):1673-1680. Epub 2017 Apr 10.

Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38192DOI Listing
June 2017

Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.

Am J Med Genet A 2017 Jun 30;173(6):1625-1630. Epub 2017 Apr 30.

Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38233DOI Listing
June 2017

Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.

Clin Case Rep 2017 06 26;5(6):905-914. Epub 2017 Apr 26.

Division of Medical Genetics Department of Pediatrics San Antonio Military Medical Center San Antonio Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457987PMC
June 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation.

Am J Med Genet A 2016 08 13;170(8):2186-90. Epub 2016 May 13.

Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.37745
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37745DOI Listing
August 2016

Tuberous sclerosis complex: Five new things.

Neurol Clin Pract 2016 Aug;6(4):339-347

Divisions of Child Neurology (DTH), Hematology/Oncology (SLW), and Medical Genetics (LOR), Department of Pediatrics, San Antonio Military Medical Center, JBSA - Ft. Sam Houston, TX; and Pediatric Epilepsy Program (EAT), Department of Neurology, Massachusetts General Hospital, Boston.

View Article

Download full-text PDF

Source
http://cp.neurology.org/lookup/doi/10.1212/CPJ.0000000000000
Publisher Site
http://dx.doi.org/10.1212/CPJ.0000000000000260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727703PMC
August 2016

Three cases of Troyer syndrome in two families of Filipino descent.

Am J Med Genet A 2016 07 26;170(7):1780-5. Epub 2016 Apr 26.

Department of Pediatrics, San Antonio Military Medical Center, JBSA Ft Sam Houston, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37658DOI Listing
July 2016

FTO variant associated with malformation syndrome.

Am J Med Genet A 2016 Apr 24;170A(4):1023-8. Epub 2015 Dec 24.

Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37515DOI Listing
April 2016

Rare case of live born with confirmed mosaic trisomy 17 and review of the literature.

Clin Case Rep 2016 Apr 16;4(4):420-4. Epub 2016 Mar 16.

Department of Pediatrics San Antonio Military Medical Center 3551 Roger Brooke Drive Fort Sam Houston 78234 Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831399PMC
April 2016

Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement.

JAAD Case Rep 2016 Mar 15;2(2):150-2. Epub 2016 Apr 15.

Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdcr.2016.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867906PMC
March 2016

Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.

Pediatr Dermatol 2015 Jan-Feb;32(1):102-8. Epub 2014 Dec 16.

College of Physicians and Surgeons, Columbia University, New York, New York.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/pde.12484
Publisher Site
http://dx.doi.org/10.1111/pde.12484DOI Listing
October 2015

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.

Am J Med Genet A 2015 Apr 3;167A(4):695-700. Epub 2015 Mar 3.

Indiana University School of Medicine-Northwest, Genetics Center, Gary, Indiana.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36956
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36956DOI Listing
April 2015

Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.

Am J Med Genet A 2015 Apr 9;167A(4):826-30. Epub 2015 Mar 9.

Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36961
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36961DOI Listing
April 2015

Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome.

Am J Med Genet A 2011 Apr 15;155A(4):850-4. Epub 2011 Mar 15.

Department of Pediatrics, National Capital Consortium, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33900DOI Listing
April 2011