Sutton, V REID : rechercher sur Z-Library

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1

Approach to Inborn Errors of Metabolism in Pediatrics

El-Hattab, Ayman W., Sutton, V. Reid

Journal:

Pediatric Clinics of North America

Année:

2018

Langue:

english

Fichier:

PDF, 168 KB

english, 2018

2

Inborn Errors of Metabolism

El-Hattab, Ayman W., Sutton, V. Reid

Journal:

Pediatric Clinics of North America

Année:

2018

Fichier:

PDF, 24 KB

2018

3

Increasing communicative interactions of young children with autism using a voice output communication aid and naturalistic teaching.

Schepis, M M, Reid, D H, Behrmann, M M, Sutton, K A

Journal:

Journal of Applied Behavioral Analysis

Année:

1998

Langue:

english

Fichier:

PDF, 247 KB

english, 1998

4

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

Patel, Ronak M., Liu, David, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Lu, James T., Sutton, V. Reid, Fernbach, Susan D., Azamian, Mahshid, White, Lisa, Edmond, Jane C., Paysse, Evelyn A., Belmon

Journal:

Molecular Case Studies

Année:

2017

Langue:

english

Fichier:

PDF, 1.58 MB

english, 2017

5

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study

Tosi, Laura L., Floor, Marianne K., Dollar, Christina M., Gillies, Austin P., Hart, Tracy S., Cuthbertson, David D., Sutton, V. Reid, Krischer, Jeffrey P.

Journal:

Orphanet Journal of Rare Diseases

Année:

2019

Langue:

english

Fichier:

PDF, 528 KB

english, 2019

6

Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

V. Reid Sutton, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 124 KB

english, 2000

7

Rising to the challenge of environmental behaviour change: Developing a reflexive diary approach

Louise Reid, Colin Hunter, Philip W. Sutton

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 820 KB

english, 2011

8

Improved standards for prenatal diagnosis of citrullinemia

Miller, Marcus J., Soler-Alfonso, Claudia R., Grund, Jaime E., Fang, Ping, Sun, Qin, Elsea, Sarah H., Sutton, V. Reid

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 447 KB

english, 2014

9

Theorizing the meso level: the household as a crucible of pro-environmental behaviour

Reid, L., Sutton, P., Hunter, C.

Journal:

Progress in Human Geography

Année:

2010

Langue:

english

Fichier:

PDF, 269 KB

english, 2010

10

Book Reviews

Wood-Robinson, Valerie, Lucas, Arthur, Croxall, J. P., Sutton, S. L., Duffus, John, Turner, John R. G., Lucas, A. M., Rowland, M. J., Reid, Donald, Vaughan, Hilary, Bird-Stewart, J. A., Simpkins, Ivor

Journal:

Journal of Biological Education

Année:

1984

Langue:

english

Fichier:

PDF, 620 KB

english, 1984

11

Osteogenesis Imperfecta || Differential Diagnosis of Osteogenesis Imperfecta in Children

Sutton, V. Reid

Année:

2014

Langue:

english

Fichier:

PDF, 183 KB

english, 2014

12

Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study

Najirad, Mohammadamin, Ma, Mang Shin, Rauch, Frank, Sutton, Vernon Reid, Lee, Brendan, Retrouvey, Jean-Marc, Esfandiari, Shahrokh

Journal:

Orphanet Journal of Rare Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 666 KB

english, 2018

13

The Use and Reliability of Psychiatric Diagnosis in Forensic Settings

Reid, William H., Wise, Michael, Sutton, Beverly

Journal:

Psychiatric Clinics of North America

Année:

1992

Fichier:

PDF, 1.40 MB

1992

14

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

Wu, Yuan-Qing, Sutton, V. Reid, Nickerson, Elizabeth, Lupski, James R., Potocki, Lorraine, Korenberg, Julie R., Greenberg, Frank, Tassabehji, Mayada, Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 313 KB

english, 1998

15

Subtelomeric FISH uncovers trisomy 14q32: Lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms

V. Reid Sutton, Karen J. Coveler, Seema R. Lalani, Catherine D. Kashork, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 118 KB

english, 2002

16

A dominantly inherited spondylometaphyseal dysplasia with “corner fractures” and congenital scoliosis

V. Reid Sutton, James C. Hyland, William A. Phillips, Alan E. Schlesinger, Paula W. Brill

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 179 KB

english, 2005

17

Facial and physical features of Aicardi syndrome: Infants to teenagers

V. Reid Sutton, Bobbi J. Hopkins, Tanya N. Eble, Nikki Gambhir, Richard A. Lewis, Ignatia B. Van den Veyver

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 262 KB

english, 2005

18

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

Frank J. Probst, Elizabeth R. Roeder, Victoria B. Enciso, Zhishuo Ou, M. Lance Cooper, Patricia Eng, Jiangzhen Li, Yanghong Gu, Robert F. Stratton, A. Craig Chinault, Chad A. Shaw, V. Reid Sutton, Sau

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 257 KB

english, 2007

19

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

Oleg A. Shchelochkov, Ankita Patel, George M. Weissenberger, A. Craig Chinault, Joanna Wiszniewska, Priscilla H. Fernandes, Christine Eng, Mary K. Kukolich, V. Reid Sutton

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 199 KB

english, 2008

20

Neuroimaging aspects of Aicardi syndrome

Bobbi Hopkins, V. Reid Sutton, Richard Alan Lewis, Ignatia Van den Veyver, Gary Clark

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 161 KB

english, 2008

21

Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients

V. Reid Sutton, Katie Plunkett, Diane X. Dang, Richard A. Lewis, Alanna F. Bree, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 256 KB

english, 2009

22

A genome-wide screen for copy number alterations in Aicardi syndrome

Xiaoling Wang, V. Reid Sutton, Tanya N. Eble, Richard Alan Lewis, Preethi Gunaratne, Ankita Patel, Ignatia B. Van den Veyver

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 453 KB

english, 2009

23

Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH

Gary Fruhman, Ayman W. El-Hattab, John W. Belmont, Ankita Patel, Sau Wai Cheung, V. Reid Sutton

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 178 KB

english, 2011

24

Coffin–Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern

Hugo R. Martinez, Mary C. Niu, V. Reid Sutton, Ricardo Pignatelli, Matteo Vatta, John L. Jefferies

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 672 KB

english, 2011

25

The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements

Kathryn D. McGowan, Joseph J. Weiser, Juli Horwitz, Sue Ann Berend, Christopher McCaskill, V. Reid Sutton, Lisa G. Shaffer

Journal:

Prenatal Diagnosis

Année:

2002

Langue:

english

Fichier:

PDF, 43 KB

english, 2002

26

Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis

Catherine D. Kashork, V. Reid Sutton, Jill S. Fonda Allen, Deborah E. Schmidt, Marisa L. Likhite, Lorraine Potocki, William E. O'Brien, Lisa G. Shaffer

Journal:

Prenatal Diagnosis

Année:

2002

Langue:

english

Fichier:

PDF, 147 KB

english, 2002

27

Regional localization of the mouse argininosuccinate lyase gene to Chromosome 5

V. Reid Sutton, Yanzhen Pan, William J. Craigen

Journal:

Mammalian Genome

Année:

1997

Langue:

english

Fichier:

PDF, 1.79 MB

english, 1997

28

A case of segmental paternal isodisomy of chromosome 14

Karen J. Coveler, Sam P. Yang, Reid V. Sutton, Jay M. Milstein, Yuan-Qing Wu, Cami Bois, Linda S. Beischel, John P. Johnson, Lisa G. Shaffer

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 114 KB

english, 2002

29

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)

V. Reid Sutton, William H. McAlister, Terry K. Bertin, Sara Kaffe, Jin-Chen C. Wang, Shoji Yano, Lisa G. Shaffer, Brendan Lee, Charles J. Epstein, Angela J. Villar

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 267 KB

english, 2003

30

Allele-specific methylation of a functional CTCF binding site upstream ofMEG3in the human imprinted domain of 14q32

Alberto L. Rosa, Yuan-Qing Wu, Bernard Kwabi-Addo, Karen J. Coveler, V. Reid Sutton, Lisa G. Shaffer

Journal:

Chromosome Research

Année:

2005

Langue:

english

Fichier:

PDF, 518 KB

english, 2005

31

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 377 KB

english, 2010

32

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

Wang, Xiaoling, Reid Sutton, V, Omar Peraza-Llanes, J, Yu, Zhiyin, Rosetta, Rebecca, Kou, Ying-Chuck, Eble, Tanya N, Patel, Ankita, Thaller, Christina, Fang, Ping

Journal:

Nature Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 240 KB

english, 2007

33

Non-random X chromosome inactivation in Aicardi syndrome

Tanya N. Eble, V. Reid Sutton, Haleh Sangi-Haghpeykar, Xiaoling Wang, Weihong Jin, Richard A. Lewis, Ping Fang, Ignatia B. Van den Veyver

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 313 KB

english, 2009

34

Validation of a Small Animal Model for Soft Tissue Filler Characterization

Alexander T. Hillel, Zayna Nahas, Shimon Unterman, Branden Reid, Joyce Axelman, Damon Sutton, Christine Matheson, Jennifer Petsche, Jennifer H. Elisseeff

Journal:

Dermatologic Surgery

Année:

2012

Langue:

english

Fichier:

PDF, 354 KB

english, 2012

35

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

Shay Ben-Shachar, Zhishuo Ou, Chad A. Shaw, John W. Belmont, Millan S. Patel, Marybeth Hummel, Stephen Amato, Nicole Tartaglia, Jonathan Berg, V. Reid Sutton, Seema R. Lalani, A. Craig Chinault, Sau W

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 589 KB

english, 2008

36

The Gender Medicine Team: “It Takes a Village”

Marni E. Axelrad, Jonathan S. Berg, Leslie Ayensu Coker, Jennifer Dietrich, Lisa Adcock, Shannon L. French, Sheila Gunn, B. Lee Ligon, Laurence B. McCullough, V. Reid Sutton, Lefkothea P. Karaviti

Journal:

Advances in Pediatrics

Année:

2009

Langue:

english

Fichier:

PDF, 246 KB

english, 2009

37

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency

Paul J. Isackson, Michael J. Bennett, Uta Lichter-Konecki, Mary Willis, William L. Nyhan, V. Reid Sutton, Ingrid Tein, Georgirene D. Vladutiu

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 524 KB

english, 2008

38

Neurologic considerations in propionic acidemia

John Schreiber, Kimberly A. Chapman, Marshall L. Summar, Nicholas Ah Mew, V. Reid Sutton, Erin MacLeod, Kathy Stagni, Keiko Ueda, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, Brittany Smith

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 244 KB

english, 2012

39

Natural history of propionic acidemia

Loren Pena, Jill Franks, Kimberly A. Chapman, Andrea Gropman, Nicholas Ah Mew, Anupam Chakrapani, Eddie Island, Erin MacLeod, Dietrich Matern, Brittany Smith, Kathy Stagni, V. Reid Sutton, Keiko Ueda,

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 182 KB

english, 2012

40

Chronic management and health supervision of individuals with propionic acidemia

V. Reid Sutton, Kimberly A. Chapman, Andrea L. Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Peña, Brittany Sm

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 230 KB

english, 2012

41

Acute management of propionic acidemia

Kimberly A. Chapman, Andrea Gropman, Erin MacLeod, Kathy Stagni, Marshall L. Summar, Keiko Ueda, Nicholas Ah Mew, Jill Franks, Eddie Island, Dietrich Matern, Loren Pena, Brittany Smith, V. Reid Sutton

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2012

42

A mouse model of argininosuccinic aciduria: biochemical characterization

V Reid Sutton, Yanzhen Pan, Erica C Davis, William J Craigen

Journal:

Molecular Genetics and Metabolism

Année:

2003

Langue:

english

Fichier:

PDF, 150 KB

english, 2003

43

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

Année:

1997

Langue:

english

Fichier:

PDF, 706 KB

english, 1997

44

High prevalence of overweight and obesity in females with phenylketonuria

Lindsay C. Burrage, Judy McConnell, Rebecca Haesler, Mary Ann O'Riordan, V. Reid Sutton, Douglas S. Kerr, Shawn E. McCandless

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 216 KB

english, 2012

45

Ophthalmologic findings in Aicardi syndrome

Gary Fruhman, Tanya N. Eble, Nikki Gambhir, V. Reid Sutton, Ignatia B. Van den Veyver, Richard A. Lewis

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Année:

2012

Langue:

english

Fichier:

PDF, 83 KB

english, 2012

46

De novotruncating mutations inASXL3are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Bainbridge, Matthew N, Hu, Hao, Muzny, Donna M, Musante, Luciana, Lupski, James R, Graham, Brett H, Chen, Wei, Gripp, Karen W, Jenny, Kim, Wienker, Thomas F, Yang, Yaping, Sutton, V REID, Gibbs, Richa

Journal:

Genome Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 956 KB

english, 2013

47

First Reported Detection of Influenza A (H1N1)pdm09 in Turkeys in the United Kingdom

Reid, Scott M., Cox, William J., Ceeraz, Vanessa, Sutton, David, Essen, Steve C., Howard, Wendy A., Slomka, Marek J., Irvine, Richard M., Brown, Ian H.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 457 KB

english, 2012

48

Cyclic Analogs of Hexestrol in the Chrysene Series

Wilds, A. L., Sutton, Reid E.

Journal:

Journal of Organic Chemistry

Année:

1951

Langue:

english

Fichier:

PDF, 688 KB

english, 1951

49

Summer Movements of the Gulf Killifish (Fundulus grandis) in a Northern Gulf of Mexico Salt Marsh

Nelson, T. Reid, Sutton, Deionta, DeVries, Dennis R.

Journal:

Estuaries and Coasts

Année:

2014

Langue:

english

Fichier:

PDF, 402 KB

english, 2014

50

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Prada, Carlos E., Gonzaga-Jauregui, Claudia, Tannenbaum, Rebecca, Penney, Samantha, Lupski, James R., Hopkin, Robert J., Sutton, V. Reid

Journal:

European Journal of Medical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2014