Northrup, Hope A.: search on Z-Library

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1

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

Roberta L. Beauchamp, Ashleigh Banwell, Patrick McNamara, Matthew Jacobsen, Erica Higgins, Hope Northrup, Priscilla Short, Katherine Sims, Laurie Ozelius, Vijaya Ramesh

Journal:

Year:

1998

Language:

english

File:

PDF, 282 KB

english, 1998

2

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

Mary D. Ruppe, Patrick G. Brosnan, Kit Sing Au, Phong X. Tran, Barbara W. Dominguez, Hope Northrup

Journal:

Clinical Endocrinology

Year:

2011

Language:

english

File:

PDF, 77 KB

english, 2011

3

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

Peron, Angela, Au, Kit Sing, Northrup, Hope

Journal:

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

Year:

2018

Language:

english

File:

PDF, 1.47 MB

english, 2018

4

Visual and Semi-automatic Non-invasive Detection of Interictal Fast Ripples: A Potential Biomarker of Epilepsy in Children with Tuberous Sclerosis Complex

Bernardo, Danilo, Nariai, Hiroki, Hussain, Shaun A., Sankar, Raman, Salamon, Noriko, Krueger, Darcy A., Sahin, Mustafa, Northrup, Hope, Martina Bebin, E., Wu, Joyce Y.

Journal:

Clinical Neurophysiology

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

5

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

Sagaser, Katelynn G., Stevens, Blair, Davis, Jessica, Northrup, Hope, Ramdaney, Aarti

Journal:

Prenatal Diagnosis

Year:

2018

Language:

english

File:

PDF, 261 KB

english, 2018

6

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

Wu, Joyce Y., Peters, Jurriaan M., Goyal, Monisha, Krueger, Darcy, Sahin, Mustafa, Northrup, Hope, Au, Kit Sing, Cutter, Gary, Bebin, E. Martina

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 602 KB

english, 2016

7

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

Pamela L. Plotner, Janice L. Smith, Hope Northrup

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 86 KB

english, 2003

8

The Impact of BRCA1 on Spina Bifida Meningomyelocele Lesions

Terri M. King, Kit-Sing Au, Timothy J. Kirkpatrick, Christina Davidson, Jack M. Fletcher, Irene Townsend, Gayle H. Tyerman, Lawrence C. Shimmin, Hope Northrup

Journal:

Annals of Human Genetics

Year:

2007

Language:

english

File:

PDF, 194 KB

english, 2007

9

42: Genetic variations in the GLUT3 gene associated with myelomeningocele

Connealy, Brendan, Northrup, Hope, Au, Kit-Sing

Journal:

American Journal of Obstetrics and Gynecology

Year:

2014

Language:

english

File:

PDF, 405 KB

english, 2014

10

Tuberous Sclerosis Complex: Genetic Aspects

Journal:

The Journal of Dermatology

Year:

1992

Language:

english

File:

PDF, 637 KB

english, 1992

11

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

12

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

13

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

Pamela L. Plotner, Janice L. Smith, Hope Northrup

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 105 KB

english, 2002

14

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

15

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

16

Genes in glucose metabolism and their association with spina bifida

Christina Davidson, Hope Northrup, Terri King, Jack Fletcher, Irene Townsend, Gayle Tyerman, Kit Sing Au

Journal:

American Journal of Obstetrics and Gynecology

Year:

2006

Language:

english

File:

PDF, 56 KB

english, 2006

17

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

18

Association of retinoic acid receptor genes with meningomyelocele

Phong X. Tran, Kit Sing Au, Alanna C. Morrison, Jack M. Fletcher, Kathryn K. Ostermaier, Gayle H. Tyerman, Hope Northrup

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2011

Language:

english

File:

PDF, 81 KB

english, 2011

19

570: Novel single nucleotide polymorphisms in the superoxide dismutase 1 (SOD1) and 2 (SOD2) genes among patients with non-syndromic myelomeningocele

Kase, Benjamin, Northrup, Hope, Au, Kit Sing

Journal:

American Journal of Obstetrics and Gynecology

Year:

2013

Language:

english

File:

PDF, 259 KB

english, 2013

20

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

Kase, Benjamin A., Northrup, Hope, Au, Kit Sing

Journal:

American Journal of Obstetrics and Gynecology

Year:

2013

Language:

english

File:

PDF, 977 KB

english, 2013

21

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Melanie M. Sohocki, Stephen P. Daiger, Sara J. Bowne, Joseph A. Rodriquez, Hope Northrup, John R. Heckenlively, David G. Birch, Helen Mintz-Hittner, Richard S. Ruiz, Richard A. Lewis, David A. Saperst

Journal:

Year:

2001

Language:

english

File:

PDF, 249 KB

english, 2001

22

Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients

Kit-Sing Au, Joseph A. Rodriguez, Jennifer L. Finch, Kelly A. Volcik, E. Steve Roach, Mauricio R. Delgado, Estanislado Rodriguez Jr., Hope Northrup

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 545 KB

english, 1998

23

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

24

Identification of 54 large deletions/duplications inTSC1andTSC2using MLPA, and genotype-phenotype correlations

Piotr Kozlowski, Penelope Roberts, Sandra Dabora, David Franz, John Bissler, Hope Northrup, Kit Sing Au, Ross Lazarus, Dorota Domanska-Pakiela, Katarzyna Kotulska, Sergiusz Jozwiak, David J. Kwiatkows

Journal:

Year:

2007

Language:

english

File:

PDF, 721 KB

english, 2007

25

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

26

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

27

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

28

Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission

McKenney, Robin R., Elder, Frederick F.B., Garcia, Jose, Northrup, Hope

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 436 KB

english, 1996

29

Spina bifida and other neural tube defects

Hope Northrup, Kelly A. Volcik

Journal:

Current Problems in Pediatric and Adolescent Health Care

Year:

2000

Language:

english

File:

PDF, 1.72 MB

english, 2000

30

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

31

Symptomatic hyperammonemia caused by a congenital portosystemic shunt

Seiji Kitagawa, Wallace A. Gleason Jr., Hope Northrup, Michael R. Middlebrook, Elisabeth Ueberschar

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 1.74 MB

english, 1992

32

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

33

Complete Inactivation of the TSC2 Gene Leads to Formation of Hamartomas

Kit-Sing Au, Adelaide A. Hebert, E. Steve Roach, Hope Northrup

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 289 KB

english, 1999

34

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

35

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

36

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

37

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

38

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

39

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

Anna-Kaisa Niemi, Hope Northrup, Louanne Hudgins, Jonathan A. Bernstein

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 77 KB

english, 2011

40

An Assessment of Risk Understanding in Hispanic Genetic Counseling Patients

Jennifer N. Eichmeyer, Hope Northrup, Michael A. Assel, Thomas J. Goka, Dennis A. Johnston, Aimee Tucker Williams

Journal:

Journal of Genetic Counseling

Year:

2005

Language:

english

File:

PDF, 169 KB

english, 2005

41

The mTOR inhibitor revolution rolls on

Journal:

The Lancet Oncology

Year:

2014

Language:

english

File:

PDF, 162 KB

english, 2014

42

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

43

[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

44

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

45

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

46

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

47

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

Kit Sing Au, Allison Ashley-Koch, Hope Northrup

Journal:

Development Diabilities Research Reviews

Year:

2010

Language:

english

File:

PDF, 174 KB

english, 2010

48

LINKAGE OF TUBEROUS SCLEROSIS TO ABO BLOOD GROUP

Northrup, Hope, Beaudet, ArthurL., O'Brien, WilliamE., Herman, GailE., Lewis, RichardA., Pollack, MarilynS.

Journal:

Year:

1987

Language:

english

File:

PDF, 446 KB

english, 1987

49

Obstetrics/Gynecology Residents’ Knowledge of Hereditary Breast and Ovarian Cancer and Lynch Syndrome

Kaylene J. Ready, Molly S. Daniels, Charlotte C. Sun, Susan K. Peterson, Hope Northrup, Karen H. Lu

Journal:

Journal of Cancer Education

Year:

2010

Language:

english

File:

PDF, 90 KB

english, 2010

50

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

Chiamaka N. Aneji, Hope Northrup, Kit Sing Au

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2012

Language:

english

File:

PDF, 944 KB

english, 2012

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