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1

Ullrich-Turner syndrome and neurofibromatosis-1

Schorry, Elizabeth K., Lovell, Anne M., Milatovich, Athena, Saal, Howard M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 334 KB

english, 1996

2

Epidemiology of hemimegalencephaly: A case series and review

Brad T. Tinkle, Elizabeth K. Schorry, David N. Franz, Kerry R. Crone, Howard M. Saal

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 191 KB

english, 2005

3

Genotype–phenotype correlations in Rubinstein–Taybi syndrome

E.K. Schorry, M. Keddache, N. Lanphear, J.H. Rubinstein, S. Srodulski, D. Fletcher, R.I. Blough-Pfau, G.A. Grabowski

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 126 KB

english, 2008

4

Skeletal demineralization and fractures caused by fetal magnesium toxicity

Wedig, K E, Kogan, J, Schorry, E K, Whitsett, J A

Journal:

Journal of Perinatology

Year:

2006

Language:

english

File:

PDF, 85 KB

english, 2006

5

Neurofibromatosis: Etiology, Commonly Encountered Spinal Deformities, Common Complications and Pitfalls of Surgical Treatment

Crawford, Alvin H., Lykissas, Marios G., Schorry, Elizabeth K., Gaines, Sean, Jain, Viral, Greggi, Tiziani, Viskochil, David

Journal:

Spine Deformity

Year:

2012

Language:

english

File:

PDF, 4.06 MB

english, 2012

6

Sirolimus for non-progressive NF1-associated plexiform neurofibromas: An NF clinical trials consortium phase II study

Weiss, Brian, Widemann, Brigitte C., Wolters, Pamela, Dombi, Eva, Vinks, Alexander A., Cantor, Alan, Korf, Bruce, Perentesis, John, Gutmann, David H., Schorry, Elizabeth, Packer, Roger, Fisher, Michae

Journal:

Pediatric Blood & Cancer

Year:

2014

Language:

english

File:

PDF, 86 KB

english, 2014

7

Does the Presence of Dystrophic Features in Patients With Type 1 Neurofibromatosis and Spinal Deformities Increase the Risk of Surgery?

Lykissas, Marios G., Schorry, Elizabeth K., Crawford, Alvin H., Gaines, Sean, Rieley, Margaret, Jain, Viral V.

Journal:

Year:

2013

Language:

english

File:

PDF, 7.55 MB

english, 2013

8

Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials

Wolters, P. L., Martin, S., Merker, V. L., Gardner, K. L., Hingtgen, C. M., Tonsgard, J. H., Schorry, E. K., Baldwin, A.

Journal:

Year:

2013

Language:

english

File:

PDF, 379 KB

english, 2013

9

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1

Sites, Emily R., Smolarek, Teresa A., Martin, Lisa J., Viskochil, David H., Stevenson, David A., Ullrich, Nicole J., Messiaen, Ludwine M., Schorry, Elizabeth K.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 296 KB

english, 2016

10

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

DiStasio, Andrew, Driver, Ashley, Sund, Kristen, Donlin, Milene, Muraleedharan, Ranjith M, Pooya, Shabnam, Kline-Fath, Beth, Kaufman, Kenneth M, Prows, Cynthia A, Schorry, Elizabeth, Dasgupta, Biplab,

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.40 MB

english, 2017

11

SAE Technical Paper Series [SAE International 3rd International Conference on Vehicle Structural Mechanics (1979) - (OCT. 10, 1979)] SAE Technical Paper Series - HIGH SPEED IMPACT AND AGGRESSIVITY ANALYSIS OF THE CALSPAN/CHRYSLER RESEARCH SAFETY VEHICLE (RSV)

Dressler, Curtis J., Schorry, Robert E.

Year:

1979

Language:

english

File:

PDF, 8.91 MB

english, 1979

12

NFM-06. NF106: PHASE 2 TRIAL OF THE MEK INHIBITOR PD-0325901 IN ADOLESCENTS AND ADULTS WITH NF1-RELATED PLEXIFORM NEUROFIBROMAS: AN NF CLINICAL TRIALS CONSORTIUM STUDY

Weiss, Brian, Plotkin, Scott, Widemann, Brigitte, Tonsgard, James, Blakeley, Jaishri, Allen, Jeffrey, Schorry, Elizabeth, Korf, Bruce, Rosser, Tena, Goldman, Stewart, Vinks, Alexander, Cutter, Gary, D

Journal:

Year:

2018

Language:

english

File:

PDF, 87 KB

english, 2018

13

New insights into the phenotypes of 6q deletions

Hopkin, R. J., Schorry, E., Bofinger, M., Milatovich, A., Stern, H. J., Jayne, C., Saal, H. M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.06 MB

english, 1997

14

Thoracic tumors in children with neurofibromatosis-1

Schorry, E.K., Crawford, A.H., Egelhoff, J.C., Lovell, A.M., Saal, H.M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 194 KB

english, 1997

15

Partial trisomy 1q with growth hormone deficiency and normal intelligence

Schorry, E.K., Dietrich, K.N., Saal, H.M., Blough, R.I., Dey, S., Chernausek, S., Milatovich-Cherry, A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 168 KB

english, 1998

16

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1

Stevenson, David A., Birch, Patricia H., Friedman, J.M., Viskochil, David H., Balestrazzi, Paolo, Boni, Stefania, Buske, Annegret, Korf, Bruce R., Niimura, Michihito, Pivnick, Eniko K., Schorry, Eliza

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 251 KB

english, 1999

17

Familial partial duplication (1)(p21p31)

Leah Hoechstetter, Shirley Soukup, Elizabeth K. Schorry

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 359 KB

english, 1995

18

Long-term survival in a patient with del(18)(q12.2q21.1)

Brad T. Tinkle, Carol A. Christianson, Elizabeth K. Schorry, Thomas Webb, Robert J. Hopkin

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 209 KB

english, 2003

19

Valproate embryopathy: Clinical and cognitive profile in 5 siblings

Elizabeth K. Schorry, Sonya G. Oppenheimer, Howard M. Saal

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 142 KB

english, 2005

20

A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother

Liming Bao, Elizabeth K. Schorry

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 148 KB

english, 2005

21

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

Yuri A. Zarate, Jillene M. Kogan, Elizabeth K. Schorry, Teresa A. Smolarek, Robert J. Hopkin

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 196 KB

english, 2007

22

Social, emotional, and behavioral functioning of children with NF1

Robert B. Noll, Jennifer Reiter-Purtill, Bartlett D. Moore, Elizabeth K. Schorry, Anne M. Lovell, Kathryn Vannatta, Cynthia A. Gerhardt

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 140 KB

english, 2007

23

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options

Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, David H. Viskochil, Janet M. Hock, Elizabeth K. Schorry, Alvin H. Crawford, Jan M. Friedman, David Little, Juha Peltonen, John C. Carey, David

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 289 KB

english, 2009

24

Variable expression of neurofibromatosis 1 in monozygotic twins

Margaret B. Rieley, David A. Stevenson, David H. Viskochil, Brad T. Tinkle, Lisa J. Martin, Elizabeth K. Schorry

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 228 KB

english, 2011

25

Lethal presentation of neurofibromatosis and Noonan syndrome

Carlos E. Prada, Yuri A. Zarate, Sean Hagenbuch, Anne Lovell, Elizabeth K. Schorry, Robert J. Hopkin

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.02 MB

english, 2011

26

Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and down's syndrome

Yang Tang, Mark B. Schapiro, David N. Franz, Bonnie J. Patterson, Francis J. Hickey, Elizabeth K. Schorry, Robert J. Hopkin, Matthew Wylie, Tina Narayan, Tracy A. Glauser, Donald L. Gilbert, Andrew D.

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 407 KB

english, 2004

27

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Ayman W. El-Hattab, Teresa A. Smolarek, Martha E. Walker, Elizabeth K. Schorry, LaDonna L. Immken, Gayle Patel, Mary-Alice Abbott, Brendan C. Lanpher, Zhishuo Ou, Sung-Hae L. Kang, Ankita Patel, Ferna

Journal:

Year:

2009

Language:

english

File:

PDF, 504 KB

english, 2009

28

Continuation of Pregnancy Following the Diagnosis of a Fetal Sex Chromosome Abnormality: A Study of Parents' Counseling Needs and Experiences

Nancie Petrucelli, Martha Walker, Elizabeth Schorry

Journal:

Journal of Genetic Counseling

Year:

1998

Language:

english

File:

PDF, 795 KB

english, 1998

29

Anbau von Pappeln und Weiden im Kurzumtrieb auf ehemaligem Acker: Standörtliche Voraussetzungen, Nährstoffversorgung, Wuchsleistung und bodenökologische auswirkungen

F. Makeschin, K. E. Rehfuess, I. Rüsch, R. Schörry

Journal:

European Journal of Forest Research

Year:

1989

Language:

german

File:

PDF, 2.33 MB

german, 1989

30

Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1

Carlos E. Prada, Fatima A. Rangwala, Lisa J. Martin, Anne M. Lovell, Howard M. Saal, Elizabeth K. Schorry, Robert J. Hopkin

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 301 KB

english, 2012

31

Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography

David A. Stevenson, David H. Viskochil, John C. Carey, Hillarie Slater, Mary Murray, Xiaoming Sheng, Jacques D'Astous, Heather Hanson, Elizabeth Schorry, Laurie J. Moyer-Mileur

Journal:

Year:

2009

Language:

english

File:

PDF, 242 KB

english, 2009

32

Gender-specific differences in tibia osseous components in prepubertal children with neurofibromatosis type 1 (NF1) and absence of tibial bowing

H. Slater, D. Viskochil, D. Stevenson, H. Hansen, H. Kalkwarf, E. Schorry, J. Adams, Z. Mughal, K. Ward, J. Friedman, L. Armstrong, M. Burrows, L. Moyer-Mileur

Journal:

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

33

Spine abnormalities in asymptomatic children with neurofibromatosis type 1 (NF1)

D. Viskochil, L. Armstrong, J. Eelloo, H. Hanson, S. Huson, Z. Mughal, K. Murray, E. Schorry, D. Stevenson

Journal:

Year:

2009

Language:

english

File:

PDF, 76 KB

english, 2009

34

Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1

Courtney Drake Sebold, Anne Lovell, Robert Hopkin, Robert Noll, Elizabeth Schorry

Journal:

Journal of Adolescent Health

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

35

Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1

Yang Tang, Aigang Lu, Ruiqiong Ran, Bruce J. Aronow, Elizabeth K. Schorry, Robert J. Hopkin, Donald L. Gilbert, Tracy A. Glauser, Andrew D. Hershey, Neil W. Richtand, Michael Privitera, Arif Dalvi, Al

Journal:

Molecular Brain Research

Year:

2004

Language:

english

File:

PDF, 842 KB

english, 2004

36

Social and emotional problems in children with neurofibromatosis type 1: Evidence and proposed interventions

Nancy S. Johnson, Howard M. Saal, Anne M. Lovell, Elizabeth K. Schorry

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 228 KB

english, 1999

37

Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome

Robert J. Hopkin, Elizabeth K. Schorry, Mary Bofinger, Howard M. Saal

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

38

Das deutsche Volksvermögen

Journal:

Year:

1949

Language:

german

File:

PDF, 755 KB

german, 1949

39

Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics

George-Abraham, Jaya K., Martin, Lisa J., Kalkwarf, Heidi J., Rieley, Margaret B., Stevenson, David A., Viskochil, David H., Hopkin, Robert J., Stevens, Austin M., Hanson, Heather, Schorry, Elizabeth

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 141 KB

english, 2013

40

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia

Hufnagel, Sophia B., Weaver, K Nicole, Hufnagel, Robert B., Bader, Patricia I., Schorry, Elizabeth K., Hopkin, Robert J.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.56 MB

english, 2014

41

Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study

Weiss, B., Widemann, B. C., Wolters, P., Dombi, E., Vinks, A., Cantor, A., Perentesis, J., Schorry, E., Ullrich, N., Gutmann, D. H., Tonsgard, J., Viskochil, D., Korf, B., Packer, R. J., Fisher, M. J.

Journal:

Year:

2015

Language:

english

File:

PDF, 304 KB

english, 2015

42

Gene Expression Analysis Identifies Potential Biomarkers of Neurofibromatosis Type 1 Including Adrenomedullin

Hummel, T. R., Jessen, W. J., Miller, S. J., Kluwe, L., Mautner, V. F., Wallace, M. R., Lazaro, C., Page, G. P., Worley, P. F., Aronow, B. J., Schorry, E. K., Ratner, N.

Journal:

Clinical Cancer Research

Year:

2010

Language:

english

File:

PDF, 335 KB

english, 2010

43

Insulin Binding and Insulin Action in Fibroblasts from Patients with Maturity-onset Diabetes of the Young

Gelehrter, T., Dilworth, V., Valka, B., McDonald, R., Schorry, E.

Journal:

Year:

1981

Language:

english

File:

PDF, 913 KB

english, 1981

44

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1

Prada, Carlos E., Hufnagel, Robert B., Hummel, Trent R., Lovell, Anne M., Hopkin, Robert J., Saal, Howard M., Schorry, Elizabeth K.

Journal:

The Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 518 KB

english, 2015

45

Parental Distress, Family Functioning, and Social Support in Families With and Without a Child With Neurofibromatosis

Reiter-Purtill, Jennifer, Schorry, Elizabeth K., Lovell, Anne M., Vannatta, Kathryn, Gerhardt, Cynthia A., Noll, Robert B.

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2006

Language:

english

File:

PDF, 338 KB

english, 2006

46

Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1

SEBOLD, C, LOVELL, A, HOPKIN, R, NOLL, R, SCHORRY, E

Journal:

Journal of Adolescent Health

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

47

Neurofibromatosis Update

Crawford, Alvin H., Schorry, Elizabeth K.

Journal:

Journal of Pediatric Orthopaedics

Year:

2006

Language:

english

File:

PDF, 1.31 MB

english, 2006

48

Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1

Payne, Jonathan M., Barton, Belinda, Ullrich, Nicole J., Cantor, Alan, Hearps, Stephen J.C., Cutter, Gary, Rosser, Tena, Walsh, Karin S., Gioia, Gerard A., Wolters, Pamela L., Tonsgard, James, Schorry

Journal:

Year:

2016

Language:

english

File:

PDF, 548 KB

english, 2016

49

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1

Stevenson, David A, Viskochil, David H, Schorry, Elizabeth K, Crawford, Alvin H, D'Astous, Jacques, Murray, Kathleen A, Friedman, J M, Armstrong, Linlea, Carey, John C

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 230 KB

english, 2007

50

MITOCHONDRIAL DISEASES (Posters)

Arroyo, M., Wong, B., Fuller, C., Schorry, E., Ulm, E., Tian, C.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018