Publications by authors named "Luis Rohena"

32Publications

Case 3: Premature Infant with Bilateral Choanal Atresia and Esophageal Atresia/Tracheoesophageal Fistula.

Neoreviews 2020 Aug;21(8):e577-e579

Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX.

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http://dx.doi.org/10.1542/neo.21-8-e577DOI Listing
August 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2020 03 14;22(3):538-546. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121PMC
March 2020

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

J Clin Sleep Med 2019 09;15(9):1369-1371

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

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http://dx.doi.org/10.5664/jcsm.7938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760398PMC
September 2019

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.

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

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.

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

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

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.

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

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

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.

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

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

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

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

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http://doi.wiley.com/10.1002/ajmg.a.37745
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http://dx.doi.org/10.1002/ajmg.a.37745DOI Listing
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.

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

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

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

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.

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

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

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.

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http://doi.wiley.com/10.1111/pde.12484
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http://dx.doi.org/10.1111/pde.12484DOI Listing
October 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.

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