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1

Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)

Fady M. Mikhail, Dawn McIlvried, R. Lynn Holt, Ludwine Messiaen, Maria D. Descartes, Andrew J. Carroll

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 208 KB

english, 2006

2

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

Maria Descartes, Julie Zenger Hain, Michael Conklin, Judy Franklin, Fady M. Mikhail, Ralph S. Lachman, Serge Nolet, Ludwine M. Messiaen

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 198 KB

english, 2008

3

A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping

Jack Q. Ji, David Dimmock, Lin-Ya Tang, Maria Descartes, Roberto Gomez, S. Lane Rutledge, Eric S. Schmitt, Lee-Jun Wong

Journal:

Year:

2010

Language:

english

File:

PDF, 315 KB

english, 2010

4

Essential role for autophagy in life span extension

Madeo, Frank, Zimmermann, Andreas, Maiuri, Maria Chiara, Kroemer, Guido, Metabolomics, France, Platforms, Cell Biology, Roussy, Institut Gustave, Université, France, Descartes, Paris, Cité, Sorbonne P

Year:

2015

Language:

english

File:

PDF, 1.12 MB

english, 2015

5

Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss

Keppler-Noreuil, Kim M., Carroll, Andrew J., Finley, Sara C., Descartes, Maria, Cody, Jannine D., DuPont, Barbara R., Gay, Charles T., Leach, Robin J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 357 KB

english, 1998

6

Congenital diaphragmatic hernia: Is 15q26.1-26.2 a candidate locus?

Joseph R. Biggio Jr, Maria D. Descartes, Andrew J. Carroll, R. Lynn Holt

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 56 KB

english, 2004

7

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene

Fady M. Mikhail, Maria Descartes, Arkadiusz Piotrowski, Robin Andersson, Teresita Diaz de Ståhl, Jan Komorowski, Carl E.G. Bruder, Jan P. Dumanski, Andrew J. Carroll

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 270 KB

english, 2007

8

Constitutional H19 hypermethylation in a patient with isolated cardiac tumor

Maria Descartes, Robb Romp, Judy Franklin, Joseph R. Biggio, Barbara Zehnbauer

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 107 KB

english, 2008

9

Distal 22q11.2 microduplication encompassing the BCR gene

Maria Descartes, Judy Franklin, Teresita Diaz de Ståhl, Arkadiusz Piotrowski, Carl E.G. Bruder, Jan P. Dumanski, Andrew J. Carroll, Fady M. Mikhail

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 219 KB

english, 2008

10

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1

Graeme Nimmo, Sarah Monsonego, Maria Descartes, Judith Franklin, Steven Steinberg, Nancy Braverman

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 193 KB

english, 2010

11

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin, Maria D. Descartes, Katherine D. Rutledge, S. Lane Rutledge, Bruce R. Korf, Andrew J. Carroll

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 552 KB

english, 2011

12

Book review

Maria C. Descartes

Journal:

Transgenic Research

Year:

1994

Language:

english

File:

PDF, 63 KB

english, 1994

13

Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene

Lewis O. Maddox, Peining Li, Amy Bennett, Maria Descartes, Jerry N. Thompson

Journal:

Year:

1997

Language:

english

File:

PDF, 873 KB

english, 1997

14

DNA from guthrie spots for diagnosis of DMD by multiplex PCR

Edward R.B. McCabe, Ying Huang, Maria Descartes, Yao-Hua Zhang, Raymond G. Fenwick

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1990

Language:

english

File:

PDF, 130 KB

english, 1990

15

Screening for cystic fibrosis: Feasibility of molecular genetic analysis of dried blood specimens

William K. Seltzer, Frank Accurso, Majilinde Z. Fall, A.J. VanRiper, Maria Descartes, Ying Huang, Edward R.B. McCabe

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1991

Language:

english

File:

PDF, 587 KB

english, 1991

16

A five-year experience with fragile X screening of high-risk gravid women

Katharine D. Wenstrom, Maria Descartes, Judy Franklin, Suzanne P. Cliver

Journal:

American Journal of Obstetrics and Gynecology

Year:

1999

Language:

english

File:

PDF, 39 KB

english, 1999

17

Terminal deletion of the long arm of chromosome 4 in a mother and two sons

Maria Descartes, Kim Keppler-Noreuil, Judith Knops, John W. Longshore, Wayne H. Finley, Andrew J. Carroll

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 376 KB

english, 1996

18

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

Hyung-Goo Kim, Shotaro Kishikawa, Anne W. Higgins, Ihn-Sik Seong, Diana J. Donovan, Yiping Shen, Eric Lally, Lauren A. Weiss, Juliane Najm, Kerstin Kutsche, Maria Descartes, Lynn Holt, Stephen Braddoc

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 964 KB

english, 2008

19

Congenital Oculomotor Nerve Synkinesis Associated Wwith Fetal Retinoid Syndrome

David G. Morrison, Frederick J. Elsas, Maria Descartes

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2005

Language:

english

File:

PDF, 174 KB

english, 2005

20

Monosomy1p36.3 and Trisomy 19p13.3 in a Child With Periventricular Nodular Heterotopia

Maria Descartes, Fady M. Mikhail, Judith C. Franklin, Tony M. McGrath, Martina Bebin

Journal:

Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 744 KB

english, 2011

21

Acrocallosal syndrome: A case report

Ekkehard Bonatz, Maria Descartes, J.R. Tamarapalli

Journal:

The Journal of Hand Surgery: British & European Volume

Year:

1997

Language:

english

File:

PDF, 1.49 MB

english, 1997

22

Emery and Rimoin's Principles and Practice of Medical Genetics || Disorders of Bone Density, Volume, and Mineralization

Descartes, Maria

Year:

2013

Language:

english

File:

PDF, 1.05 MB

english, 2013

23

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Wiszniewska, Joanna, Bi, Weimin, Shaw, Chad, Stankiewicz, Pawel, Kang, Sung-Hae L, Pursley, Amber N, Lalani, Seema, Hixson, Patricia, Gambin, Tomasz, Tsai, Chun-hui, Bock, Hans-Georg, Descartes, Maria

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.56 MB

english, 2014

24

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Mikhail, Fady M., Burnside, Rachel D., Rush, Brooke, Ibrahim, Jennifer, Godshalk, Robin, Rutledge, S. Lane, Robin, Nathaniel H., Descartes, Maria D., Carroll, Andrew J.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 1.36 MB

english, 2014

25

RAPID DETECTION OF βs DNA FROM GUTHRIE CARDS BY CHROMOGENIC PROBES

Mccabe, EdwardR.B., Zhang, Yao-Hua, Descartes, Maria, Therrell, BradfordL., Erlich, HenryA.

Journal:

Year:

1989

Language:

english

File:

PDF, 169 KB

english, 1989

26

Nanomechanical and tribological characterization of the MPC phospholipid polymer photografted onto rough polyethylene implants

Wang, Na, Trunfio-Sfarghiu, Ana-Maria, Portinha, Daniel, Descartes, Sylvie, Fleury, Etienne, Berthier, Yves, Rieu, Jean-Paul

Journal:

Colloids and Surfaces B: Biointerfaces

Year:

2013

Language:

english

File:

PDF, 2.77 MB

english, 2013

27

Hajdu–Cheney syndrome

Descartes, Maria, Rojnueangnit, Kitiwan, Cole, Laura, Sutton, Amelia, Morgan, Sarah L., Patry, Lysanne, Samuels, Mark E.

Journal:

Clinical Dysmorphology

Year:

2014

Language:

english

File:

PDF, 618 KB

english, 2014

28

Role of Surface Industrial Finishing Process of Joint Implant UHMWPE on their Tribological Behaviour

Popa, Mihaela, Wang, Na, Descartes, Sylvie, Trunfio-Sfarghiu, Ana Maria

Journal:

Applied Mechanics and Materials

Year:

2014

Language:

english

File:

PDF, 693 KB

english, 2014

29

A Novel Light-Cured Dental Material Based on Maleic Copolymer Functionalized With Urethane Derivative for Dental Applications

Pelin, Irina M., Buruiana, Tinca, Melinte, Violeta, Descartes, Sylvie, Trunfio-Sfarghiu, Ana-Maria, Farge, Pierre

Journal:

International Journal of Polymeric Materials

Year:

2015

Language:

english

File:

PDF, 1.22 MB

english, 2015

30

AsktheGeneticistSM: five years of online experience

Tesla, Catherine, Korf, Bruce R, Holt, Lynn, Prucka, Sandra, Robin, Nathaniel H, Descartes, Maria, Lose, Edward, Stembridge, Adrya, Epstein, Michael, Warren, Stephen

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 316 KB

english, 2009

31

Genotypic Confirmation from the Original Dried Blood Specimens in a Neonatal Hemoglobinopathy Screening Program

Descartes, Maria, Huang, Ying, Zhang, Yao Hua, McCabe, Linda L, Gibbs, Richard, Therrell, Bradford L, McCabe, Edward R B

Journal:

Pediatric Research

Year:

1992

Language:

english

File:

PDF, 725 KB

english, 1992

32

Oculoauriculovertebral spectrum with 5p15.33-pter deletion

Descartes, Maria

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 87 KB

english, 2006

33

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

Rosenfeld, Jill A., Fox, Joyce E., Descartes, Maria, Brewer, Fallon, Stroud, Tracy, Gorski, Jerome L., Upton, Sheila J., Moeschler, John B., Monteleone, Berrin, Neill, Nicholas J., Lamb, Allen N., Bal

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 908 KB

english, 2015

34

A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report of two siblings

Descartes, Maria, Royal, Stuart A., Franklin, Judith, Goodin, Kara, Mancuso, Melissa, Mikhail, Fady M., Holt, Lynn

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 182 KB

english, 2009

35

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

Hollenbeck, Dana, Williams, Crescenda L., Drazba, Kathryn, Descartes, Maria, Korf, Bruce R., Rutledge, S. Lane, Lose, Edward J., Robin, Nathaniel H., Carroll, Andrew J., Mikhail, Fady M.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 3.08 MB

english, 2016

36

Mild orotic aciduria inUMPSheterozygotes: a metabolic finding without clinical consequences

Wortmann, Saskia B., Chen, Margaret A., Colombo, Roberto, Pontoglio, Alessandro, Alhaddad, Bader, Botto, Lorenzo D., Yuzyuk, Tatiana, Coughlin, Curtis R., Descartes, Maria, Grűnewald, Stephanie, Maran

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 1.25 MB

english, 2017

37

A child with hyper-IgM syndrome and multiple endocrinopathies with mutations in signal transducer and activator 5B (STAT5B), phosphatidylinositol 3-kinase catalytic subunit delta (PIK3CD) and phosphatidylinositol 3-kinase regulatory subunit 1 (PIK3R1)

Curtiss, Miranda L., Descartes, Maria, Korf, Bruce R., Atkinson, T. Prescott

Journal:

Journal of Allergy and Clinical Immunology

Year:

2017

Language:

english

File:

PDF, 125 KB

english, 2017

38

Congenital central hypoventilation syndrome mimicking mitochondrial disease

Rojnueangnit, Kitiwan, Descartes, Maria

Journal:

Clinical Case Reports

Year:

2018

Language:

english

File:

PDF, 80 KB

english, 2018

39

A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome

Upadia, Jariya, Gomes, Alicia, Weiser, Peter, Descartes, Maria

Journal:

Journal of Pediatric Genetics

Year:

2018

Language:

english

File:

PDF, 224 KB

english, 2018

40

Swaiman's Pediatric Neurology || Chromosomes and Chromosomal Abnormalities

Descartes, Maria

Year:

2017

Language:

english

File:

PDF, 1006 KB

english, 2017