Publications by authors named "Hope Northrup"

96Publications

is important for mammalian neural tube closure via its role in canonical and non-canonical WNT signaling.

Development 2020 Nov 19;147(22). Epub 2020 Nov 19.

Department of Molecular, Cellular, and Developmental Biology, University of Colorado Boulder, Boulder, CO 80309, USA

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http://dx.doi.org/10.1242/dev.192518DOI Listing
November 2020

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.

Pediatr Neurol 2020 Dec 29;113:46-50. Epub 2020 Jul 29.

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.07.015DOI Listing
December 2020

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.

PLoS One 2020 24;15(9):e0239083. Epub 2020 Sep 24.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0239083PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7514064PMC
November 2020

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.

Mol Genet Genomic Med 2020 Nov 22;8(11):e1495. Epub 2020 Sep 22.

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA.

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http://dx.doi.org/10.1002/mgg3.1495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667334PMC
November 2020

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.

Am J Med Genet A 2020 11 4;182(11):2581-2593. Epub 2020 Sep 4.

Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.61830DOI Listing
November 2020

TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family.

Pediatr Neurol 2020 09 4;110:89-91. Epub 2020 May 4.

Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.04.017DOI Listing
September 2020

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.

Mol Genet Genomic Med 2020 07 8;8(7):e1296. Epub 2020 May 8.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1002/mgg3.1296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336739PMC
July 2020

Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex.

Epilepsy Behav 2020 02 18;103(Pt A):106844. Epub 2019 Dec 18.

Department of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/j.yebeh.2019.106844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947531PMC
February 2020

Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder.

J Neurodev Disord 2019 12 16;11(1):36. Epub 2019 Dec 16.

Computational Radiology Laboratory, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Harvard University, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1186/s11689-019-9293-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912944PMC
December 2019

EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex.

J Autism Dev Disord 2020 Mar;50(3):916-923

Department of Neurology, Harvard Medical School, Harvard University, 300 Longwood Avenue, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10803-019-04326-0DOI Listing
March 2020

Pegvaliase: Immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapy.

Mol Genet Metab 2019 Sep - Oct;128(1-2):84-91. Epub 2019 Jun 17.

Department of Dermatology and Allergy, School of Medicine Technical University of Munich, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.05.006DOI Listing
April 2020

Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.

Birth Defects Res 2019 11 16;111(18):1356-1364. Epub 2019 Jul 16.

Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas.

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http://dx.doi.org/10.1002/bdr2.1549DOI Listing
November 2019

Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex.

J Neuroimaging 2019 11 14;29(6):750-759. Epub 2019 Jul 14.

Fetal-Neonatal Neuroimaging & Developmental Science Center, Boston Children's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1111/jon.12653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7020733PMC
November 2019

Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex.

Epilepsia 2019 08 12;60(8):1721-1732. Epub 2019 Jul 12.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1111/epi.16284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687536PMC
August 2019

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.

Pediatr Neurol 2019 07 13;96:58-63. Epub 2019 Mar 13.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6837240PMC
July 2019

The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health Treatment.

Pediatr Neurol 2019 02 3;91:41-49. Epub 2018 Nov 3.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health at Houston, Houston, Texas; University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.10.011DOI Listing
February 2019

Tuberous sclerosis complex.

Am J Med Genet C Semin Med Genet 2018 09 16;178(3):274-277. Epub 2018 Oct 16.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.c.31657DOI Listing
September 2018

Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.

Am J Med Genet C Semin Med Genet 2018 09 26;178(3):281-290. Epub 2018 Sep 26.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.c.31651DOI Listing
September 2018

Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex.

Clin Neurophysiol 2018 07 3;129(7):1458-1466. Epub 2018 Apr 3.

Division of Pediatric Neurology, Department of Pediatrics, UCLA Mattel Children's Hospital, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S13882457183026
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http://dx.doi.org/10.1016/j.clinph.2018.03.010DOI Listing
July 2018

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

Mol Genet Metab 2018 05 31;124(1):27-38. Epub 2018 Mar 31.

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.03.006DOI Listing
May 2018

Close but not quite: Two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening.

Prenat Diagn 2018 Apr 12. Epub 2018 Apr 12.

Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1002/pd.5264DOI Listing
April 2018

Glycyl tRNA Synthetase () Gene Variant Causes Distal Hereditary Motor Neuropathy V.

Case Rep Pediatr 2018 30;2018:8516285. Epub 2018 Jan 30.

Children's Memorial Hermann Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1155/2018/8516285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831963PMC
January 2018

Mutations in folate transporter genes and risk for human myelomeningocele.

Am J Med Genet A 2017 Nov 26;173(11):2973-2984. Epub 2017 Sep 26.

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650522PMC
November 2017

Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.

Am J Med Genet A 2017 Nov 25;173(11):3042-3057. Epub 2017 Sep 25.

Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Houston-McGovern Medical School, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650505PMC
November 2017

Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies.

J Genet Couns 2018 02 13;27(1):169-176. Epub 2017 Aug 13.

Genetic Counseling Program, The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.

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http://dx.doi.org/10.1007/s10897-017-0137-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794801PMC
February 2018

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.

Invest Ophthalmol Vis Sci 2017 05;58(5):2774-2784

Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas, United States 5Ruiz Department of Ophthalmology and Visual Science, McGovern Medical School, The University of Texas Health Science Center, Houston, Texas, United States.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.16-21341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455168PMC
May 2017

Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

Eur J Med Genet 2017 Jun 27;60(6):285-288. Epub 2017 Mar 27.

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, Houston, TX 77030, United States.

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http://dx.doi.org/10.1016/j.ejmg.2017.03.006DOI Listing
June 2017

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

Am J Med Genet A 2017 Mar;173(3):771-775

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.38083DOI Listing
March 2017

Knowledge and Self-Esteem of Individuals with Neurofibromatosis Type 1 (NF1).

J Genet Couns 2017 Jun 4;26(3):620-627. Epub 2016 Nov 4.

The University of Texas Graduate School of Biomedical Sciences, Houston, TX, USA.

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http://dx.doi.org/10.1007/s10897-016-0036-9DOI Listing
June 2017

Genetic association of the glycine cleavage system genes and myelomeningocele.

Birth Defects Res A Clin Mol Teratol 2016 Oct 13;106(10):847-853. Epub 2016 Sep 13.

Division of Medical Genetics, Department of Pediatrics, The University of Texas Health Science Center at Houston - McGovern Medical School, Houston, Texas.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074854PMC
http://dx.doi.org/10.1002/bdra.23552DOI Listing
October 2016

Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

Hum Mol Genet 2016 10 11;25(19):4201-4210. Epub 2016 Aug 11.

Barbara & Donald Jonas Stem Cell Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Institute of Human Nutrition, Irving Comprehensive Cancer Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA

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http://dx.doi.org/10.1093/hmg/ddw253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291196PMC
October 2016

Maternal gene-micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspring.

Birth Defects Res 2017 01;109(2):99-105

Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas.

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http://dx.doi.org/10.1002/bdra.23538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5250578PMC
January 2017

KIAA2022 nonsense mutation in a symptomatic female.

Am J Med Genet A 2016 Mar 17;170(3):703-6. Epub 2015 Nov 17.

Division of Medical Genetics, Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37479DOI Listing
March 2016

Efficacy of a medical genetics rotation during pediatric training.

Genet Med 2016 Feb 14;18(2):199-202. Epub 2015 May 14.

Division of Medical Genetics, Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.2015.65DOI Listing
February 2016

Association of facilitated glucose transporter 2 gene variants with the myelomeningocele phenotype.

Birth Defects Res A Clin Mol Teratol 2015 Jun 17;103(6):479-87. Epub 2015 Mar 17.

Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/bdra.23358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478216PMC
June 2015

Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.

Pediatr Neurol 2015 Mar 7;52(3):361-5. Epub 2014 Nov 7.

Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.10.023DOI Listing
March 2015

The mTOR inhibitor revolution rolls on.

Authors:
Hope Northrup

Lancet Oncol 2014 Dec 10;15(13):1418-1419. Epub 2014 Nov 10.

Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/S1470-2045(14)71101-5DOI Listing
December 2014

Genetic variations in the GLUT3 gene associated with myelomeningocele.

Am J Obstet Gynecol 2014 Sep 9;211(3):305.e1-8. Epub 2014 May 9.

Division of Medical Genetics, Department of Pediatrics, University of Texas Medical School at Houston, Houston, TX.

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http://dx.doi.org/10.1016/j.ajog.2014.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149867PMC
September 2014

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.

Pediatr Neurol 2013 Oct;49(4):255-65

Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4058297PMC
October 2013

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.

Pediatr Neurol 2013 Oct;49(4):243-54

Division of Medical Genetics, Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080684PMC
October 2013

Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele.

Am J Obstet Gynecol 2013 Oct 20;209(4):388.e1-7. Epub 2013 Jun 20.

Department of Obstetrics, Gynecology, and Reproductive Sciences, The University of Texas Medical School at Houston, Houston, TX.

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http://dx.doi.org/10.1016/j.ajog.2013.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3786042PMC
October 2013

Self-reported reproductive health in women with tuberous sclerosis complex.

Genet Med 2013 Dec 9;15(12):966-71. Epub 2013 May 9.

1] Genetic Counseling Program, Graduate School of Biomedical Science, University of Texas Health Science Center at Houston, Houston, Texas, USA [2] Current address: Center for Personalized Healthcare, Cleveland Clinic, Cleveland, Ohio, USA (E.K.G.) Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA (M.J.G.).

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http://dx.doi.org/10.1038/gim.2013.60DOI Listing
December 2013

Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients.

PLoS One 2012 5;7(12):e51330. Epub 2012 Dec 5.

Department of Pediatrics, University of Texas Medical School at Houston, The University of Texas Health Science Center at Houston, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0051330PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3515551PMC
May 2013

Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele.

Birth Defects Res A Clin Mol Teratol 2012 Oct 13;94(10):762-9. Epub 2012 Sep 13.

Department of Obstetrics, Gynecology and Reproductive Sciences, The University of Texas Medical School at Houston, Houston, TX 77030, USA.

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http://doi.wiley.com/10.1002/bdra.23065
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http://dx.doi.org/10.1002/bdra.23065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506000PMC
October 2012

Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Birth Defects Res A Clin Mol Teratol 2012 Feb 12;94(2):84-90. Epub 2012 Jan 12.

Neonatal-Perinatal Medicine, Department of Pediatrics, University of Texas Houston Health Science Center, Houston, Texas, USA.

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http://dx.doi.org/10.1002/bdra.22884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327553PMC
February 2012

Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.

Birth Defects Res A Clin Mol Teratol 2012 Jan 28;94(1):52-6. Epub 2011 Sep 28.

Division of Neonatal-Perinatal Medicine, Department of Pediatrics The University of Texas Medical School at Houston, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/bdra.22855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3256260PMC
January 2012

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.

Am J Med Genet A 2011 Oct 9;155A(10):2534-7. Epub 2011 Sep 9.

Division of Medical Genetics, Department of Pediatrics, Stanford University, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.34197DOI Listing
October 2011

Association of retinoic acid receptor genes with meningomyelocele.

Birth Defects Res A Clin Mol Teratol 2011 Jan 1;91(1):39-43. Epub 2010 Dec 1.

Department of Pediatrics, University of Texas Medical School at Houston, TX 77030, USA.

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http://dx.doi.org/10.1002/bdra.20744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3044482PMC
January 2011

A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele.

Reprod Sci 2011 May 6;18(5):463-8. Epub 2010 Dec 6.

Department of Obstetrics, Gynecology, and Reproductive Sciences, The University of Texas Medical School at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1177/1933719110388293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3117222PMC
May 2011

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.

Clin Endocrinol (Oxf) 2011 Mar;74(3):312-8

Department of Medicine, University of Texas Health Science Center at Houston, TX 77030, USA.

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http://dx.doi.org/10.1111/j.1365-2265.2010.03919.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3035757PMC
March 2011

Epidemiologic and genetic aspects of spina bifida and other neural tube defects.

Dev Disabil Res Rev 2010 ;16(1):6-15

Division of Medical Genetics, Department of Pediatrics, The University of Texas, Medical School at Houston, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ddrr.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053142PMC
August 2010

Obstetrics/gynecology residents' knowledge of hereditary breast and ovarian cancer and Lynch syndrome.

J Cancer Educ 2010 Sep;25(3):401-4

Department of Breast Medical Oncology-Unit 1354, The University of Texas MD Anderson Cancer Center, PO Box 301439, Houston, TX 77230-1439, USA.

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http://dx.doi.org/10.1007/s13187-010-0063-4DOI Listing
September 2010

Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida.

Am J Obstet Gynecol 2009 Oct 15;201(4):394.e1-11. Epub 2009 Aug 15.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Health Science Center, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ajog.2009.06.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790326PMC
October 2009

Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents.

Genet Med 2009 Mar;11(3):163-8

Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, 64341 Fannin Street, Houston, TX 77030, USA.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e3181930787
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http://dx.doi.org/10.1097/GIM.0b013e3181930787DOI Listing
March 2009

Tuberous sclerosis complex: disease modifiers and treatments.

Curr Opin Pediatr 2008 Dec;20(6):628-33

Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Houston, Texas, USA.

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http://dx.doi.org/10.1097/MOP.0b013e328318c529DOI Listing
December 2008

Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex.

J Child Neurol 2008 Oct;23(10):1238-9

Department of Pediatrics, Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, Texas, USA.

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http://dx.doi.org/10.1177/0883073808321764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072698PMC
October 2008

Genes in glucose metabolism and association with spina bifida.

Reprod Sci 2008 Jan;15(1):51-8

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Medical School at Houston, TX 77030, USA.

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http://dx.doi.org/10.1177/1933719107309590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2592548PMC
January 2008

The impact of BRCA1 on spina bifida meningomyelocele lesions.

Ann Hum Genet 2007 Nov 19;71(Pt 6):719-28. Epub 2007 Jul 19.

The University of Texas Medical School at Houston, Department of Pediatrics, Division of Medical Genetics and Developmental Pediatrics, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1111/j.1469-1809.2007.00377.xDOI Listing
November 2007

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.

Hum Genet 2007 May 8;121(3-4):389-400. Epub 2007 Feb 8.

Genetics Laboratory, Division of Translational Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1007/s00439-006-0308-9DOI Listing
May 2007

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

Pediatr Res 2006 Apr;59(4 Pt 1):590-2

Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1203/01.pdr.0000203092.83074.ebDOI Listing
April 2006

An assessment of risk understanding in Hispanic genetic counseling patients.

J Genet Couns 2005 Aug;14(4):319-28

Division of Medical Genetics, Department of Pediatrics, The University of Texas Medical School at Houston, Texas.

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http://dx.doi.org/10.1007/s10897-005-0759-5DOI Listing
August 2005

Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.

J Child Neurol 2004 Sep;19(9):699-709

Department of Pediatrics, Division of Medical Genetics, The University of Texas Medical School at Houston, Houston, TX 77030, USA.

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http://dx.doi.org/10.1177/08830738040190091101DOI Listing
September 2004

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.

Nat Genet 2004 Oct 29;36(10):1053-5. Epub 2004 Aug 29.

Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1038/ng1420DOI Listing
October 2004

Knowledge and attitudes of Hispanic women and their health care providers about breast cancer risk factors and screening.

Community Genet 2002 ;5(4):222-31

Department of Pediatrics, Division of Medical Genetics, The University of Texas Medical School at Houston, Houston, 77030, USA.

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https://www.karger.com/Article/FullText/66685
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http://dx.doi.org/10.1159/000066685DOI Listing
March 2004

Deletion 12q: a second patient with 12q24.31q24.32 deletion.

Am J Med Genet A 2003 May;118A(4):350-2

Division of Medical Genetics, Department of Pediatrics, University of Texas Medical School at Houston, 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.10232DOI Listing
May 2003

Circadian pattern of blood pressure, heart rate, and double product in liver glycogen storage disease.

Chronobiol Int 2002 Jul;19(4):765-83

Division of Community and General Pediatrics, The University of Texas-Houston Medical School, 77030, USA.

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http://dx.doi.org/10.1081/cbi-120006081DOI Listing
July 2002

Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.

Am J Med Genet 2002 Jul;111(1):71-5

Division of Medical Genetics, Department of Pediatrics, University of Texas Medical School at Houston, 77030, USA.

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http://dx.doi.org/10.1002/ajmg.10420DOI Listing
July 2002