Barbouth, Deborah S : rechercher sur Z-Library

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1

700: Jewish genetic diseases: larger screening panel increases the aggregate carrier rate in the Ashkenazi Jewish population

Adele Schneider, Deborah Barbouth, Faye Shapiro, Debra Wasserman, Karen Grinzaid, Shoshana Rosen, Paul Fernhoff, Arnold Cohen, Jodi Hoffman

Journal:

American Journal of Obstetrics and Gynecology

Année:

2012

Langue:

english

Fichier:

PDF, 55 KB

english, 2012

2

Gaucher disease and SARS-CoV-2 infection: Emerging management challenges

Mistry, Pramod, Balwani, Manisha, Barbouth, Deborah, Burrow, T. Andrew, Ginns, Edward I., Goker-Alpan, Ozlem, Grabowski, Gregory A., Kartha, Reena V., Kishnani, Priya S., Lau, Heather, Lee, Chung U.,

Journal:

Molecular Genetics and Metabolism

Année:

2020

Fichier:

PDF, 681 KB

2020

3

Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes

Orenstein, Marissa, Barbouth, Deborah, Bodamer, Olaf A, Weinreb, Neal J

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 443 KB

english, 2014

4

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

Al-Sannaa, Nouriya A., Bay, Luisa, Barbouth, Deborah S., Benhayoun, Youssef, Goizet, Cyril, Guelbert, Norberto, Jones, Simon A., Kyosen, Sandra Obikawa, Martins, Ana Maria, Phornphutkul, Chanika, Reig

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2015

5

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

Yao-Shan Fan, Parul Jayakar, Hongbo Zhu, Deborah Barbouth, Stephanie Sacharow, Ana Morales, Virginia Carver, Paul Benke, Peter Mundy, Louis J. Elsas

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 295 KB

english, 2007

6

Macrocephaly-Capillary Malformation: A Report of Three Cases and Review of the Literature

Mercedes E. Gonzalez, Cynthia J. Burk, Deborah S. Barbouth, Elizabeth Alvarez Connelly

Journal:

Pediatric Dermatology

Année:

2009

Langue:

english

Fichier:

PDF, 279 KB

english, 2009

7

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

Eugen-Matthias Strehle, Linbo Yu, Jill A. Rosenfeld, Sandra Donkervoort, Yulin Zhou, Tian-Jian Chen, Jose E. Martinez, Yao-Shan Fan, Deborah Barbouth, Hongbo Zhu, Alicia Vaglio, Rosemarie Smith, Cathy

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 263 KB

english, 2012

8

Patients with Type 1 Gaucher Disease in South Florida: Demographic Profile, DS3 Severity Scores and Therapeutic Goals Outcomes

Marissa Orenstein, Neal Weinreb, Olaf Bodamer, Deborah Barbouth

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 56 KB

english, 2012

9

Causes of Death (COD) in 184 Patients With Type 1 Gaucher Disease (GD1) from the United States Who Were Never Treated With Enzyme Replacement Therapy (ERT)

Neal Weinreb, Deborah Barbouth, Claire Adkins, Robert E. Lee

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 54 KB

english, 2012

10

Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience

Warsch, Jessica R. L., Warsch, Sean, Herman, Elizabeth, Zakarin, Lauren, Schneider, Adele, Hoffman, Jodi, Wasserman, Deborah, Barbouth, Deborah

Journal:

Journal of Community Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 380 KB

english, 2014

11

Comprehensive analysis of the transcriptional landscape of the humanFMR1gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome

Pastori, Chiara, Peschansky, Veronica J., Barbouth, Deborah, Mehta, Arpit, Silva, Jose P., Wahlestedt, Claes

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 455 KB

english, 2014

12

Mitteilungen der DMG

Fan, Yao-Shan, Ouyang, Xiaomei, Peng, Jinghong, Sacharow, Stephanie, Tekin, Mustafa, Barbouth, Deborah, Bodamer, Olaf, Yusupov, Roman, Navarrete, Christina, Heller, Ana H, Pena, Sérgio DJ

Journal:

Gynäkologische Endokrinologie

Année:

2013

Langue:

german

Fichier:

PDF, 585 KB

german, 2013

13

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

Fan, Yao-Shan, Ouyang, Xiaomei, Peng, Jinghong, Sacharow, Stephanie, Tekin, Mustafa, Barbouth, Deborah, Bodamer, Olaf, Yusupov, Roman, Navarrete, Christina, Heller, Ana H, Pena, Sérgio DJ

Journal:

Molecular Cytogenetics

Année:

2013

Langue:

english

Fichier:

PDF, 275 KB

english, 2013

14

Correlation between birth weight, disease severity and outcomes in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Bodamer, Olaf, Lampe, Christina, Jones, Simon A., Scarpa, Maurizio, Zeman, Jiri, Barbouth, Deborah, Hung, Christina, Vieira, Taiane, Morin, Isabelle, Giugliani, Roberto

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 206 KB

english, 2015

15

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: Analysis of eight sibling pairs

Pleat, Rebecca, Al-Sannaa, Nouriya, Barbouth, Deborah S., Benhayoun, Youssef, Goizet, Cyril, Guelbert, Norberto, Jones, Simon A., Kyosen, Sandra, Martins, Ana Maria, Phornphutkul, Chanika, Reig, Celia

Journal:

Molecular Genetics and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 84 KB

english, 2015

16

Screening Newborns for Galactosemia Using Total Body Galactose Oxidation to CO2 in Expired Air

Barbouth, Deborah S, Velazquez, Darcy L, Konopka, Stanley, Wilkinson, J James D, Carver, Virginia H, Elsas, Louis J

Journal:

Pediatric Research

Année:

2007

Fichier:

PDF, 174 KB

2007

17

Screening Newborns for Galactosemia Using Total Body Galactose Oxidation to CO2 in Expired Air

Barbouth, Deborah S, Velazquez, Darcy L, Konopka, Stanley, Wilkinson, J James D, Carver, Virginia H, Elsas, Louis J

Journal:

Pediatric Research

Année:

2007

Langue:

english

Fichier:

PDF, 174 KB

english, 2007

18

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment

Morales, Ana, Wierenga, Andrea, Cuthbert, Carla, Sacharow, Stephanie, Jayakar, Parul, Velazquez, Darcy, Loring, Jessica, Barbouth, Deborah

Journal:

Genetics in Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 294 KB

english, 2009

19

Screening, Evaluation, and Management of a Child With Developmental Delay

Barbouth, Deborah, Brosco, Jeffrey P.

Journal:

Pediatric Case Reviews

Année:

2002

Langue:

english

Fichier:

PDF, 433 KB

english, 2002

20

Prevention of a molecular misdiagnosis in galactosemia

Barbouth, Deborah, Slepak, Tatiana, Klapper, Helene, Lai, Kent, Elsas, Louis J

Journal:

Genetics in Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 433 KB

english, 2006

21

Patient Management Problem

Barbouth, Deborah S., Weinreb, Neal J.

Journal:

CONTINUUM: Lifelong Learning in Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 332 KB

english, 2011

22

Patient Management Problem-Preferred Responses

Barbouth, Deborah S., Weinreb, Neal J.

Journal:

CONTINUUM: Lifelong Learning in Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 389 KB

english, 2011

23

Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy

Weinreb, Neal J, Barbouth, Deborah S, Lee, Robert E

Journal:

Blood Cells, Molecules, and Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 392 KB

english, 2016

24

Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis

Gorla, Sudheer, Raja, Kishore, Garg, Ashish, Barbouth, Deborah, Rusconi, Paolo

Journal:

Journal of Pediatric Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 372 KB

english, 2018

25

Uniparental disomy causing myoclonus dystonia associated with Russell Silver syndrome

Shpiner, Danielle S., Bardos, Jonah, Barbouth, Deborah S., Moore, Henry P.

Journal:

Movement Disorders Clinical Practice

Année:

2019

Langue:

english

Fichier:

PDF, 133 KB

english, 2019

26

Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome

Varon, Alberto, Whitt, Zachary, Kalika, Paige M., Potocki, Lorraine, Barbouth, Deborah S., Walz, Katherina

Journal:

American Journal of Medical Genetics Part A

Année:

2019

Langue:

english

Fichier:

PDF, 778 KB

english, 2019

27

Early-Onset Marfan Syndrome: A Case Series

Ardhanari, Mohanageetha, Barbouth, Deborah, Swaminathan, Sethuraman

Journal:

Journal of Pediatric Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 137 KB

english, 2019

28

A founder nonâcoding GALT variant interfering with splicing causes galactosemia

Latchman, Kumarie, Brown, Jeanette, Sineni, Claire J., RaginâDames, Lorrien, Guo, Shengru, Huang, Jingyu, Thorson, Willa, Hacker, Stephanie, Barbouth, Deborah, Tekin, Mustafa, Bademci, Guney

Journal:

Journal of Inherited Metabolic Disease

Année:

2020

Fichier:

PDF, 1.34 MB

2020