June-Anne Gold : rechercher sur Z-Library

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1

Nutritional phases in Prader–Willi syndrome

Jennifer L. Miller, Christy H. Lynn, Danielle C. Driscoll, Anthony P. Goldstone, June-Anne Gold, Virginia Kimonis, Elisabeth Dykens, Merlin G. Butler, Jonathan J. Shuster, Daniel J. Driscoll

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 175 KB

english, 2011

2

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Merlin G. Butler, Jennifer Sturich, Susan E. Myers, June-Anne Gold, Virginia Kimonis, Daniel J. Driscoll

Journal:

Journal of Assisted Reproduction and Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 152 KB

english, 2009

3

Genetics of Craniosynostosis

Virginia Kimonis, June-Anne Gold, Trevor L. Hoffman, Jayesh Panchal, Simeon A. Boyadjiev

Journal:

Seminars in Pediatric Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 3.07 MB

english, 2007

4

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

Hailing Su, Weiwei Fan, Pinar E. Coskun, Jouni Vesa, June-Anne Gold, Yong-Hui Jiang, Prasanth Potluri, Vincent Procaccio, Allan Acab, John H. Weiss, Douglas C. Wallace, Virginia E. Kimonis

Journal:

Neuroscience Letters

Année:

2011

Langue:

english

Fichier:

PDF, 634 KB

english, 2011

5

57. Initiating enzyme replacement therapy in young child diagnosed with Hunter syndrome shortly after approval of idursulfase

June-Anne Gold, Anirudh Saronwala, Maureen Bocian, J. Jay Gargus

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 43 KB

english, 2009

6

Frequency of Prader–Willi syndrome in births conceived via assisted reproductive technology

Gold, June-Anne, Ruth, Chelsey, Osann, Kathryn, Flodman, Pamela, McManus, Barbara, Lee, Hye-Seung, Donkervoort, Sandra, Khare, Manaswitha, Roof, Elizabeth, Dykens, Elizabeth, Driscoll, Daniel J., Butl

Journal:

Genetics in Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 315 KB

english, 2014

7

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome

Henkhaus, Rebecca S., Kim, Soo-Jeong, Kimonis, Virginia E., Gold, June-Anne, Dykens, Elisabeth M., Driscoll, Daniel J., Butler, Merlin G.

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2012

Langue:

english

Fichier:

PDF, 826 KB

english, 2012

8

Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome

Khare, Manaswitha, Gold, June-Anne, Wencel, Marie, Billimek, John, Surampalli, Abhilasha, Duarte, Bridgette, Pontello, Andria, Galassetti, Pietro, Cassidy, Suzanne, Kimonis, Virginia E.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 628 KB

english, 2014

9

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3)

Dang, Vy, Surampalli, Abhilasha, Manzardo, Ann M., Youn, Stephanie, Butler, Merlin G., Gold, June-Anne, Kimonis, Virginia E.

Journal:

Cytogenetic and Genome Research

Année:

2016

Langue:

english

Fichier:

PDF, 561 KB

english, 2016

10

Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study

Miller, Jennifer L., Tamura, Roy, Butler, Merlin G., Kimonis, Virginia, Sulsona, Carlos, Gold, June-Anne, Driscoll, Daniel J.

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 492 KB

english, 2017

11

A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester

Jones, Meredith, Chung, Judith, Kimonis, Virginia, Gold, June-Anne

Journal:

Clinical Dysmorphology

Année:

2017

Langue:

english

Fichier:

PDF, 136 KB

english, 2017

12

Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome

Gold, June-Anne, Mahmoud, Ranim, Cassidy, Suzanne B., Kimonis, Virginia

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 436 KB

english, 2018

13

Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome

Singh, Preeti, Mahmoud, Ranim, Gold, June-Anne, Miller, Jennifer L, Roof, Elizabeth, Tamura, Roy, Dykens, Elisabeth ‎, Butler, Merlin G, Driscoll, Dan J, Kimonis, Virginia

Journal:

Journal of Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 194 KB

english, 2018

14

Child Neurology: Siblings with infantile epilepsy and developmental delay

Liu, Yin, Michelson, David, Clark, Robin, Gold, June-Anne

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 250 KB

english, 2018

15

The importance of preconception and prenatal genetic evaluation in heart transplant individuals and fetal and postnatal cardiac monitoring in their offspring

Liu, Yin, Bock, Matthew J., Gold, June-Anne

Journal:

Cardiology in the Young

Année:

2018

Langue:

english

Fichier:

PDF, 490 KB

english, 2018

16

Contributing factors of mortality in Prader-Willi syndrome

Proffitt, Jennifer, Osann, Kathryn, McManus, Barbara, Kimonis, Virginia E., Heinemann, Janalee, Butler, Merlin G., Stevenson, David A., Gold, June-Anne

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2018

17

A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome

Kimonis, Virginia, Surampalli, Abhilasha, Wencel, Marie, Gold, June-Anne, Cowen, Neil M., Buchowski, Maciej S.

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 2.07 MB

english, 2019

18

Early Diagnosis in Prader–Willi Syndrome Reduces Obesity and Associated Co-Morbidities

Kimonis, Virginia E., Tamura, Roy, Gold, June-Anne, Patel, Nidhi, Surampalli, Abhilasha, Manazir, Javeria, Miller, Jennifer L., Roof, Elizabeth, Dykens, Elisabeth, Butler, Merlin G., Driscoll, Daniel

Journal:

Année:

2019

Fichier:

PDF, 654 KB

2019