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51

Efficacy of a medical genetics rotation during pediatric training

Nguyen, Joanne, Lemons, Jennifer, Crandell, Sharon, Northrup, Hope

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 451 KB

english, 2015

52

Exfoliative Erythroderma Resulting From Inadequate Intake of Branched-Chain Amino Acids in Infants With Maple Syrup Urine Disease

Journal:

Archives of Dermatology

Year:

1993

Language:

english

File:

PDF, 3.52 MB

english, 1993

53

Self-reported reproductive health in women with tuberous sclerosis complex

Gabitzsch, Emily K., Hashmi, Syed S., Koenig, Mary Kay, Raia, Marianna H., Whittemore, Vicky H., Northrup, Hope, Nader, Shahla, Gambello, Michael J.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 314 KB

english, 2013

54

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

Wells, Amy Stanford, Northrup, Hope, Crandell, Sharon S, King, Terri M, Champaigne, Neena L, Yafi, Michael, Therrell, Bradford L, Noblin, Sarah Jane

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 515 KB

english, 2009

55

Asymptomatic Isolated Human Glycerol Kinase Deficiency Associated with Splice-Site Mutations and Nonsense-Mediated Decay of Mutant RNA

Zhang, Yao-Hua, Huang, Bing-Ling, Jialal, Ishwarlal, Northrup, Hope, McCabe, Edward R B, Dipple, Katrina M

Journal:

Pediatric Research

Year:

2006

Language:

english

File:

PDF, 308 KB

english, 2006

56

On the Surgical Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex

Baumgartner, James E., Wheless, James W., Kulkarni, Sri, Northrup, Hope, Au, Kit-Sing, Smith, Andrew, Brookshire, Bonnie

Journal:

Pediatric Neurosurgery

Year:

1997

File:

PDF, 1.52 MB

1997

57

KIAA2022 nonsense mutation in a symptomatic female

Farach, Laura S., Northrup, Hope

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 329 KB

english, 2016

58

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

Ruggiero, Jaclyn E., Northrup, Hope, Au, Kit Sing

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2015

Language:

english

File:

PDF, 329 KB

english, 2015

59

Tuberous sclerosis complex: disease modifiers and treatments

Au, Kit Sing, Ward, Catherine H, Northrup, Hope

Journal:

Current Opinion in Pediatrics

Year:

2008

Language:

english

File:

PDF, 237 KB

english, 2008

60

Tuberous Sclerosis Complex: Genetic Aspects

Journal:

The Journal of Dermatology

Year:

1992

Language:

english

File:

PDF, 637 KB

english, 1992

61

Genetic association of the glycine cleavage system genes and myelomeningocele

Shah, Rita H., Northrup, Hope, Hixson, James E., Morrison, Alanna C., Au, Kit Sing

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2016

Language:

english

File:

PDF, 322 KB

english, 2016

62

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

Rosnau, Kayla, Hashmi, S. Shahrukh, Northrup, Hope, Slopis, John, Noblin, Sarah, Ashfaq, Myla

Journal:

Journal of Genetic Counseling

Year:

2017

Language:

english

File:

PDF, 359 KB

english, 2017

63

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

Nguyen, Margaret P., Lupo, Philip J., Northrup, Hope, Morrison, Alanna C., Cirino, Paul T., Au, Kit Sing

Journal:

Birth Defects Research

Year:

2017

Language:

english

File:

PDF, 90 KB

english, 2017

64

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

Aggarwal, Anjali, Rodriguez-Buritica, David F., Northrup, Hope

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.16 MB

english, 2017

65

Tuberous sclerosis complex and polycystic kidney disease together: An exception to the contiguous gene syndrome

Woerner, Audrey C, Au, Kit-Sing, Williams, Aimee T, Harris, Peter C, Northrup, Hope

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 148 KB

english, 2006

66

Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies

Wagner, Victoria F., Northrup, Hope, Hashmi, S. Shahrukh, Nguyen, Joanne M., Koenig, Mary Kay, Davis, Jessica M.

Journal:

Journal of Genetic Counseling

Year:

2017

Language:

english

File:

PDF, 436 KB

english, 2017

67

Mutations in folate transporter genes and risk for human myelomeningocele

Findley, Tina O., Tenpenny, Joy C., O'Byrne, Michelle R., Morrison, Alanna C., Hixson, James E., Northrup, Hope, Au, Kit Sing

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 755 KB

english, 2017

68

Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants

Davis, Peter E., Filip-Dhima, Rajna, Sideridis, Georgios, Peters, Jurriaan M., Au, Kit Sing, Northrup, Hope, Bebin, E. Martina, Wu, Joyce Y., Krueger, Darcy, Sahin, Mustafa

Journal:

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

69

Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex

Koenig, Mary Kay, Bell, Cynthia S., Hebert, Adelaide A., Roberson, Joan, Samuels, Joshua A., Slopis, John M., Tate, Patti, Northrup, Hope

Journal:

JAMA Dermatology

Year:

2018

Language:

english

File:

PDF, 1.19 MB

english, 2018

70

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

Chung, Peter, Northrup, Hope, Azmath, Misbah, Mosquera, Ricardo A., Moody, Shade, Yadav, Aravind

Journal:

Case Reports in Pediatrics

Year:

2018

Language:

english

File:

PDF, 1.45 MB

english, 2018

71

Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial

Slopis, John M., Arevalo, Octavio, Bell, Cynthia S., Hebert, Adelaide A., Northrup, Hope, Riascos, Roy F., Samuels, Joshua A., Smith, Keri C., Tate, Patti, Koenig, Mary Kay

Journal:

Year:

2018

Language:

english

File:

PDF, 1.34 MB

english, 2018

72

High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex

Hussain, Shaun A., Schmid, Ernst, Peters, Jurriaan M., Goyal, Monisha, Bebin, E. Martina, Northrup, Hope, Sahin, Mustafa, Krueger, Darcy A., Wu, Joyce Y., Pearson, Deborah, Williams, Marian E., Hanson

Journal:

Epilepsy Research

Year:

2018

Language:

english

File:

PDF, 771 KB

english, 2018

73

Tuberous sclerosis complex

Peron, Angela, Northrup, Hope

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2018

Language:

english

File:

PDF, 879 KB

english, 2018

74

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

Mowrey, Kate E., Ashfaq, Myla, Pearson, Deborah A, Hashmi, S. Shahrukh, Roberds, Steven L., Farach, Laura S., Northrup, Hope

Journal:

Pediatric Neurology

Year:

2018

Language:

english

File:

PDF, 919 KB

english, 2018

75

[IEEE 2018 40th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) - Honolulu, HI (2018.7.18-2018.7.21)] 2018 40th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) - Automated Detection of High Frequency Oscillations in Human Scalp Electroencephalogram

Charupanit, Krit, Nunez, Michael D., Bernardo, Danilo, Bebin, Martina, Krueger, Darcy A., Northrup, Hope, Sahin, Mustafa, Wu, Joyce Y., Lopour, Beth A.

Year:

2018

Language:

english

File:

PDF, 837 KB

english, 2018

76

Knowledge and Attitudes of Hispanic Women and Their Health Care Providers about Breast Cancer Risk Factors and Screening

Strecker, Michelle N., Williams, Aimee J., Bondy, Melissa, Johnston, Dennis A., Northrup, Hope

Journal:

Community Genetics

Year:

2002

Language:

english

File:

PDF, 122 KB

english, 2002

77

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Longo, Nicola, Dimmock, David, Levy, Harvey, Viau, Krista, Bausell, Heather, Bilder, Deborah A., Burton, Barbara, Gross, Christel, Northrup, Hope, Rohr, Fran, Sacharow, Stephanie, Sanchez-Valle, Amari

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 519 KB

english, 2018

78

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

Hausmann, Oliver, Daha, Mohamed, Longo, Nicola, Knol, Edward, Müller, Ingo, Northrup, Hope, Brockow, Knut

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 939 KB

english, 2019

79

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

Davis, Peter E., Kapur, Kush, Filip‐Dhima, Rajna, Trowbridge, Sara K., Little, Elaina, Wilson, Andrew, Leuchter, Andrew, Bebin, Elizabeth M., Krueger, Darcy, Northrup, Hope, Wu, Joyce Y., Sahin, Musta

Journal:

Year:

2019

Language:

english

File:

PDF, 1.49 MB

english, 2019

80

Resting‐State fMRI Networks in Children with Tuberous Sclerosis Complex

Ahtam, Banu, Dehaes, Mathieu, Sliva, Danielle D., Peters, Jurriaan M., Krueger, Darcy A., Bebin, Elizabeth Martina, Northrup, Hope, Wu, Joyce Y., Warfield, Simon K., Sahin, Mustafa, Grant, Patricia El

Journal:

Journal of Neuroimaging

Year:

2019

Language:

english

File:

PDF, 576 KB

english, 2019

81

Expression of the Neural Stem Cell Markers NG2 and L1 in Human Angiomyolipoma: Are Angiomyolipomas Neoplasms of Stem Cells?

Lim, So Dug, Stallcup, William, Lefkove, Benjamin, Govindarajan, Baskaran, Au, Kit Sing, Northrup, Hope, Lang, Deborah, Fisher, David E., Patel, Avani, Amin, Mahul B., Arbiser, Jack L.

Journal:

Molecular Medicine

Year:

2007

Language:

english

File:

PDF, 399 KB

english, 2007

82

Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study

Wu, Joyce Y., Goyal, Monisha, Peters, Jurriaan M., Krueger, Darcy, Sahin, Mustafa, Northrup, Hope, Au, Kit S., O’Kelley, Sarah, Williams, Marian, Pearson, Deborah A., Hanson, Ellen, Byars, Anna W., Kr

Journal:

Year:

2019

Language:

english

File:

PDF, 525 KB

english, 2019

83

The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex

Scherrer, Benoit, Prohl, Anna K, Taquet, Maxime, Kapur, Kush, Peters, Jurriaan M, Tomas-Fernandez, Xavier, Davis, Peter E, M Bebin, Elizabeth, Krueger, Darcy A, Northrup, Hope, Y Wu, Joyce, Sahin, Mus

Journal:

Cerebral Cortex

Year:

2019

File:

PDF, 1.55 MB

2019

84

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

Cook, Ian A., Wilson, Andrew C., Peters, Jurriaan M., Goyal, Monisha N., Bebin, E. Martina, Northrup, Hope, Krueger, Darcy, Leuchter, Andrew F., Sahin, Mustafa

Journal:

Journal of Autism and Developmental Disorders

Year:

2019

File:

PDF, 1.07 MB

2019

85

Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex

SÃ¡nchez FernÃ¡ndez, IvÃ¡n, Yang, Edward, Calvachi, Paola, Amengual-Gual, Marta, Wu, Joyce Y., Krueger, Darcy, Northrup, Hope, Bebin, Martina E., Sahin, Mustafa, Yu, Kun-Hsing, Peters, Jurriaan M., Li

Journal:

Year:

2020

File:

PDF, 1.18 MB

2020

86

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

Mowrey, Kate, Koenig, Mary Kay, Szabo, Charles A., Samuels, Joshua, Mulligan, Shannon, Pearson, Deborah A., Northrup, Hope

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 381 KB

2020

87

Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex

Grayson, Leslie E., Peters, Jurriaan M., McPherson, Tarrant, Krueger, Darcy A., Sahin, Mustafa, Wu, Joyce Y., Northrup, Hope A., Porter, Brenda, Cutter, Gary R., O'Kelley, Sarah E., Krefting, Jessica,

Journal:

Pediatric Neurology

Year:

2020

File:

PDF, 1.26 MB

2020

88

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

Streff, Haley, Posey, Jennifer E., Mauer, Caitlin B., Krempely, Kate, Potocki, Lorraine, Northrup, Hope

Journal:

Pediatric Neurology

Year:

2020

File:

PDF, 607 KB

2020

89

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/oneâcarbon metabolism networks

Hillman, Paul, Baker, Craig, Hebert, Luke, Brown, Michael, Hixson, James, AshleyâKoch, Allison, Morrison, Alanna C., Northrup, Hope, Au, Kit Sing

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 1.70 MB

2020

90

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex

Farach, Laura S., Richard, Melissa A., Lupo, Philip J., Sahin, Mustafa, Krueger, Darcy A., Wu, Joyce Y., Bebin, Elizabeth M., Au, Kit Sing, Northrup, Hope, Sahin, M., Krueger, D., Bebin, M., Wu, J.Y.,

Journal:

Pediatric Neurology

Year:

2020

File:

PDF, 409 KB

2020

91

Patterns of co-occurring birth defects among infants with hypospadias

Ludorf, Katherine L., Benjamin, Renata H., Navarro Sanchez, Maria Luisa, McLean, Scott D., Northrup, Hope, Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Scheuerle, Angela E., Scott, Daryl

Journal:

Journal of Pediatric Urology

Year:

2020

File:

PDF, 383 KB

2020

92

Snx3 is important for mammalian neural tube closure via its role in canonical and non-canonical WNT signaling

Brown, Heather Mary, Murray, Stephen A., Northrup, Hope, Au, Kit Sing, Niswander, Lee A.

Journal:

Development (The Company of Biologists)

Year:

2020

File:

PDF, 5.27 MB

2020