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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

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

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

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

7

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

8

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16

Kit-Sing Au, Joseph A. Rodriguez, Estanislado Rodriguez Jr., William B. Dobyns, Mauricio R. Delgado, Hope Northrup

Journal:

Year:

1997

Language:

english

File:

PDF, 240 KB

english, 1997

9

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

10

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

11

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

12

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

13

Association of folate receptor (folr1, folr2, folr3) and reduced folate carrier (slc19a1) genes with meningomyelocele

Michelle R. O'Byrne, Kit Sing Au, Alanna C. Morrison, Jone-Ing Lin, Jack M. Fletcher, Kathryn K. Ostermaier, Gayle H. Tyerman, Sabine Doebel, Hope Northrup

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2010

Language:

english

File:

PDF, 202 KB

english, 2010

14

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

15

Genetic studies of the cystathionine beta-synthase gene and myelomeningocele

Melissa M. Tilley, Hope Northrup, Kit Sing Au

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2012

Language:

english

File:

PDF, 365 KB

english, 2012

16

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

17

Prenatal diagnosis of citrullinaemia: Review of a 10-year experience including recent use of DNA analysis

Hope Northrup, Arthur L. Beaudet, William E. O'Brien

Journal:

Prenatal Diagnosis

Year:

1990

Language:

english

File:

PDF, 527 KB

english, 1990

18

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

19

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

20

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

21

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

22

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

Grinberg, Inessa, Northrup, Hope, Ardinger, Holly, Prasad, Chitra, Dobyns, William B, Millen, Kathleen J

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 291 KB

english, 2004

23

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

24

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

25

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

26

575: Results of a genetic association study of genes in folate metabolism and spina bifida

Carla A. Martinez, Hope Northrup, Jone-Ing Lin, Alanna Morrison, Jack M. Fletcher, Gayle Tyerman, Kit Sing Au

Journal:

American Journal of Obstetrics and Gynecology

Year:

2008

Language:

english

File:

PDF, 242 KB

english, 2008

27

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

Carla A. Martinez, Hope Northrup, Jone-Ing Lin, Alanna C. Morrison, Jack M. Fletcher, Gayle H. Tyerman, Kit Sing Au

Journal:

American Journal of Obstetrics and Gynecology

Year:

2009

Language:

english

File:

PDF, 592 KB

english, 2009

28

711: Genetic variation in the GLUT1 gene of patients affected with meningomyelocele

Clint Cormier, Hope Northrup, Kit Sing Au

Journal:

American Journal of Obstetrics and Gynecology

Year:

2009

Language:

english

File:

PDF, 104 KB

english, 2009

29

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

Benjamin A. Kase, Hope Northrup, Alanna C. Morrison, Christina M. Davidson, Amanda M. Goiffon, Jack M. Fletcher, Kathryn K. Ostermaier, Gayle H. Tyerman, Kit Sing Au

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2012

Language:

english

File:

PDF, 185 KB

english, 2012

30

COL5a1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers—Danlos syndrome type II

Daniel S. Greenspan, Hope Northrup, Kit-Sing Au, Kimberly A. McAllister, Clair A. Francomano, Richard J. Wenstrup, Douglas A. Marchuk, David J. Kwiatkowski

Journal:

Year:

1995

Language:

english

File:

PDF, 315 KB

english, 1995

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

Recessive inheritance of von Willebrand's disease type I: Eikenboom JCJ, Reitsma Ph, Peerlinck KMJ, Briet E. Lancet 1993; 341:982–6

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 108 KB

english, 1993

33

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

34

Germ-Line Mosaicism in Tuberous Sclerosis: How Common?

Verna M. Rose, Kit-Sing Au, Gretchen Pollom, E. Steve Roach, Heather R. Prashner, Hope Northrup

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.06 MB

english, 1999

35

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

36

Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome

Stuart K. Shapira, Christopher McCaskill, Hope Northrup, Aimee S. Spikes, F.F.B. Elder, V. Reid Sutton, Julie R. Korenberg, Frank Greenberg, Lisa G. Shaffer

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 706 KB

english, 1997

37

Induction of sister-chromatid exchanges and chromosomal aberrations in hematopoietic tissue of a marine fish following in vivo exposure to genotoxic carcinogens

Michael B. Maddock, Hope Northrup, Tara J. Ellingham

Journal:

Mutation Research/Genetic Toxicology

Year:

1986

Language:

english

File:

PDF, 981 KB

english, 1986

38

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

39

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

40

Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Northrup, Hope, Krueger, Darcy A.

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 2.39 MB

english, 2013

41

Genetic variations in the GLUT3 gene associated with myelomeningocele

Connealy, Brendan D., Northrup, Hope, Au, Kit Sing

Journal:

American Journal of Obstetrics and Gynecology

Year:

2014

Language:

english

File:

PDF, 796 KB

english, 2014

42

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Krueger, Darcy A., Northrup, Hope

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 204 KB

english, 2013

43

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

44

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

45

Multilocus linkage analysis with the human argininosuccinate synthetase gene

Northrup, Hope, Lathrop, Mark, Lu, Shu-Ying, Daiger, Stephen P., Beaudet, Arthur L., O'Brien, William E.

Journal:

Year:

1989

Language:

english

File:

PDF, 320 KB

english, 1989

46

Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity

Fletcher, Jack M., Copeland, Kim, Frederick, Jon A., Blaser, Susan E., Kramer, Larry A., Northrup, Hope, Hannay, H. Julia, Brandt, Michael E., Francis, David J., Villarreal, Grace, Drake, James M., La

Journal:

Journal of Neurosurgery Pediatrics

Year:

2005

Language:

english

File:

PDF, 140 KB

english, 2005

47

CIRCADIAN PATTERN OF BLOOD PRESSURE, HEART RATE, AND DOUBLE PRODUCT IN LIVER GLYCOGEN STORAGE DISEASE

Yetman, Robert J., Andrew-Casal, Melanie, Hermida, Ramón C., Dominguez, Barbara W., Portman, Ronald J., Northrup, Hope, Smolensky, Michael H.

Journal:

Chronobiology International

Year:

2002

Language:

english

File:

PDF, 368 KB

english, 2002

48

The mTOR inhibitor revolution rolls on

Journal:

The Lancet Oncology

Year:

2014

Language:

english

File:

PDF, 162 KB

english, 2014

49

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

Sullivan, Lori S., Bowne, Sara J., Birch, David G., Hughbanks-Wheaton, Dianna, Heckenlively, John R., Lewis, Richard Alan, Garcia, Charles A., Ruiz, Richard S., Blanton, Susan H., Northrup, Hope, Gire

Journal:

Investigative Ophthalmology & Visual Science

Year:

2006

Language:

english

File:

PDF, 169 KB

english, 2006

50

Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism

Soler-Alfonso, Claudia, Enns, Gregory M., Koenig, Mary Kay, Saavedra, Heather, Bonfante-Mejia, Eliana, Northrup, Hope

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 885 KB

english, 2015