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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

Year:

2012

Language:

english

File:

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

Year:

2020

File:

PDF, 681 KB

2020

3

Influence de l'adsorption chimique de l'oxygène sur le comportement électrochimique des alliages fer-chrome

Nisso Barbouth, Jacques Oudar, Jacques Bénard

Journal:

Journal of Electroanalytical Chemistry and Interfacial Electrochemistry

Year:

1973

File:

PDF, 269 KB

1973

4

Thermodynamic studies of the solubility and of the diffusion of sulfur in Ni-15Cr-10Fe alloy

H. Talah, N. Barbouth, P. Marcus

Journal:

Journal of Nuclear Materials

Year:

1987

Language:

english

File:

PDF, 434 KB

english, 1987

5

Thermodynamic study of iron-nickel-sulphur solid solutions

P. Netter, N. Barbouth, J. Oudar

Journal:

Scripta Metallurgica

Year:

1983

Language:

english

File:

PDF, 113 KB

english, 1983

6

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

Year:

2014

Language:

english

File:

PDF, 443 KB

english, 2014

7

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

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

8

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:

Year:

2007

Language:

english

File:

PDF, 295 KB

english, 2007

9

Influence de l'adsorption chimique du soufre sur le comportement electrochimique du cuivre dans une solution d'acide nitrique

N. Barbouth, J. Pagetti, J. Oudar

Journal:

Electrochimica Acta

Year:

1972

File:

PDF, 747 KB

1972

10

Manufacture of mazzite-type high-silica crystalline aluminosilicates

F. Di Renzo, F. Fajula, N. Barbouth

Journal:

Year:

1995

Language:

english

File:

PDF, 103 KB

english, 1995

11

Influence de l'adsorption chimique d'anions sur l'électrocristallisation de l'argent et du cuivre

R. Rousseau, P. Delescluse, F. Delamare, N. Barbouth, J. Oudar

Journal:

Surface Technology

Year:

1978

File:

PDF, 800 KB

1978

12

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

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

13

Sulfur poisoning and regeneration of polycristalline platinum for butadiene hydrogenation

D. Vassilakis, N. Barbouth, J. Oudar

Journal:

Catalysis Letters

Year:

1990

Language:

english

File:

PDF, 549 KB

english, 1990

14

Influence of adsorbed sulfur on the catalytic activity of platinum in the ethylene hydrogenation reaction

N. Barbouth, M. Salame

Journal:

Journal of Catalysis

Year:

1987

Language:

english

File:

PDF, 376 KB

english, 1987

15

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

Year:

2012

Language:

english

File:

PDF, 263 KB

english, 2012

16

Etude thermodynamique de la solubilite et de la diffusion du soufre dans le palladium

N. Barbouth, Y. Berthier, M. Assefi

Journal:

Journal of the Less Common Metals

Year:

1988

File:

PDF, 727 KB

1988

17

Etude thermodynamique des solutions solides fer-soufre, cobalt-soufre et nickel-soufre

Nisso Barbouth, Jacques Oudar

Journal:

Scripta Metallurgica

Year:

1972

File:

PDF, 181 KB

1972

18

Etude thermodynamique des solutions solides: Fer-chrome-soufre et chrome-soufre

Par Nisso Barbouth, Jacques Oudar

Journal:

Scripta Metallurgica

Year:

1976

File:

PDF, 208 KB

1976

19

Solubility of sulphur in iron-chromium alloys

J. Oudar, N. Barbouth

Journal:

Scripta Metallurgica

Year:

1981

Language:

english

File:

PDF, 167 KB

english, 1981

20

Diffusion of sulphur in iron-chromium alloys

C. Fillastre, N. Barbouth, J. Oudar

Journal:

Scripta Metallurgica

Year:

1982

Language:

english

File:

PDF, 205 KB

english, 1982

21

Combined home enzyme replacement therapy and unrelated cord blood transplantation for Hurler’s syndrome (MPSI) in a pediatric HSCT center

M. Rodriguez, I. Khimji, S. Rhodd, C. Lapage, L. Zalesky, P. Jimenez, D. Barbouth, L. Elsas, G. Kleiner

Journal:

Biology of Blood and Marrow Transplantation

Year:

2005

Language:

english

File:

PDF, 47 KB

english, 2005

22

Combined home enzyme replacement therapy and unrelated cord blood transplant for Hurler’s syndrome (MPSI)

I. Khimji, C. Lepage, L. Zalesky, P. Jimenez, D. Barbouth, L. Elsas, I. Delgado, B. Briery, P. Gordon, G.I. Kleiner

Journal:

Biology of Blood and Marrow Transplantation

Year:

2006

Language:

english

File:

PDF, 56 KB

english, 2006

23

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

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

24

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

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

25

Thermodynamic study of sulphur-silver-gold solid solutions

Mathilde Delhoume-Debreu, Nisso Barbouth, Jacques Oudar

Journal:

Scripta Metallurgica

Year:

1987

Language:

english

File:

PDF, 187 KB

english, 1987

26

The thermodynamics of some metallic 2D sulphides

J. Bénard, J. Oudar, N. Barbouth, E. Margot, Y. Berthier

Journal:

Surface Science

Year:

1979

Language:

english

File:

PDF, 349 KB

english, 1979

27

Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH

Yu, S., Barbouth, D., Benke, P.J., Warburton, P.E., Fan, Y.-S.

Journal:

Cytogenetic and Genome Research

Year:

2007

Language:

english

File:

PDF, 293 KB

english, 2007

28

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

Year:

2014

Language:

english

File:

PDF, 380 KB

english, 2014

29

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:

Year:

2014

Language:

english

File:

PDF, 455 KB

english, 2014

30

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

Year:

2013

Language:

german

File:

PDF, 585 KB

german, 2013

31

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

Year:

2013

Language:

english

File:

PDF, 275 KB

english, 2013

32

THE CATTLE PLAGUE.

Barbouth, N., Oudar, J.

Journal:

Year:

1865

Language:

english

File:

PDF, 584 KB

english, 1865

33

Thermodynamic study of sulphur - silver - palladium solid solutions

Barbouth, N., Oudar, J.

Journal:

Scripta Metallurgica et Materialia

Year:

1993

Language:

english

File:

PDF, 175 KB

english, 1993

34

Intergranular segregation of sulfur in the Fe-Ni 36 alloys

Mostefa, L.Ben, Saindrenan, G., Barbouth, N., Brass, A.M., Chene, J.

Journal:

Scripta Metallurgica et Materialia

Year:

1990

Language:

english

File:

PDF, 787 KB

english, 1990

35

Fragile X Syndrome: A Review of Associated Medical Problems

Kidd, S. A., Lachiewicz, A., Barbouth, D., Blitz, R. K., Delahunty, C., McBrien, D., Visootsak, J., Berry-Kravis, E.

Journal:

Year:

2014

Language:

english

File:

PDF, 867 KB

english, 2014

36

Investigation of Dispersion and Localization of Platinum Species in Mazzite Using EXAFS

Khodakov, Andrei, Barbouth, Nisso, Oudar, Jacques, Villain, Françoise, Bazin, Dominique, Dexpert, Hervé, Schulz, Philippe

Journal:

Journal of Physical Chemistry B

Year:

1997

Language:

english

File:

PDF, 129 KB

english, 1997

37

Effect of Pt particle size on H/D exchange of methane over alumina- and zeolite-supported catalysts

Khodakov, Andrei, Barbouth, Nisso, Berthier, Yves, Oudar, Jacques, Schulz, Philippe

Journal:

Journal of the Chemical Society Faraday Transactions

Year:

1995

Language:

english

File:

PDF, 835 KB

english, 1995

38

The First Steps of the Sulfurization of III–V Compounds

Journal:

Journal of The Electrochemical Society

Year:

1986

Language:

english

File:

PDF, 673 KB

english, 1986

39

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

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

40

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

Year:

2015

Language:

english

File:

PDF, 84 KB

english, 2015

41

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

Year:

2007

File:

PDF, 174 KB

2007

42

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

Year:

2007

Language:

english

File:

PDF, 174 KB

english, 2007

43

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

Year:

2009

Language:

english

File:

PDF, 294 KB

english, 2009

44

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

Barbouth, Deborah, Brosco, Jeffrey P.

Journal:

Pediatric Case Reviews

Year:

2002

Language:

english

File:

PDF, 433 KB

english, 2002

45

Prevention of a molecular misdiagnosis in galactosemia

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

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 433 KB

english, 2006

46

Patient Management Problem

Barbouth, Deborah S., Weinreb, Neal J.

Journal:

CONTINUUM: Lifelong Learning in Neurology

Year:

2011

Language:

english

File:

PDF, 332 KB

english, 2011

47

Patient Management Problem-Preferred Responses

Barbouth, Deborah S., Weinreb, Neal J.

Journal:

CONTINUUM: Lifelong Learning in Neurology

Year:

2011

Language:

english

File:

PDF, 389 KB

english, 2011

48

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

Year:

2016

Language:

english

File:

PDF, 392 KB

english, 2016

49

ChemInform Abstract: Sulphur Diffusion in Some Silver-Gold Alloys.

DELHOUME-DEBREU, M., BARBOUTH, N.

Journal:

Chemischer Informationsdienst

Year:

1986

File:

PDF, 220 KB

1986

50

ChemInform Abstract: DIFFUSION VON SCHWEFEL IN EINER LEGIERUNG FE-18%CR

DE RUGY, H., BARBOUTH, N., OUDAR, J.

Journal:

Chemischer Informationsdienst

Year:

1981

File:

PDF, 129 KB

1981

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