Mikhail, Fady : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (77)
Les plus populaires
Liste
- Liste
- Tableau

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

Année:

2006

Langue:

english

Fichier:

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

Année:

2008

Langue:

english

Fichier:

PDF, 198 KB

english, 2008

3

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR

Emily Spencer, Julia Davis, Fady Mikhail, Chuanhua Fu, Raymon Vijzelaar, Elaine H Zackai, Holly Feret, M Stephen Meyn, Andrea Shugar, Gary Bellus, Kristina Kocsis, Sirpa Kivirikko, Minna Pöyhönen, Lud

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 2.05 MB

english, 2011

4

Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities

Mikhail, Fady M., Heerema, Nyla A., Rao, Kathleen W., Burnside, Rachel D., Cherry, Athena M., Cooley, Linda D.

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 397 KB

english, 2016

5

A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature

Upadia, Jariya, Philips, Joseph B., Robin, Nathaniel H., Lose, Edward J., Mikhail, Fady M.

Journal:

Clinical Case Reports

Année:

2018

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2018

6

Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

Fady M. Mikhail, Achara Sathienkijkanchai, Nathaniel H. Robin, Sandra Prucka, Julie Sanford Biggerstaff, Jan Komorowski, Robin Andersson, Carl E.G. Bruder, Arkadiusz Piotrowski, Teresita Diaz de Ståhl

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 221 KB

english, 2007

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

Année:

2007

Langue:

english

Fichier:

PDF, 270 KB

english, 2007

8

A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogenetics

Rachel D. Burnside, Fady M. Mikhail, Paula C. Cosper

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 157 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

Année:

2008

Langue:

english

Fichier:

PDF, 219 KB

english, 2008

10

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication

Rachel D. Burnside, Edward J. Lose, Maria G. Domínguez, Jose Sánchez-Corona, Horacio Rivera, Andrew J. Carroll, Fady M. Mikhail

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 239 KB

english, 2009

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

Année:

2011

Langue:

english

Fichier:

PDF, 552 KB

english, 2011

12

A novel gene, FGA7, is fused to RUNX1/AML1 in a t(4;21)(q28;q22) in a patient with T-cell acute lymphoblastic leukemia

Fady M. Mikhail, Lionel Coignet, Nadia Hatem, Zeinab I. Mourad, Hala M. Farawela, Dalal M. El Kaffash, Nahla Farahat, Giuseppina Nucifora

Journal:

Genes, Chromosomes and Cancer

Année:

2004

Langue:

english

Fichier:

PDF, 517 KB

english, 2004

13

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

Ludwine Messiaen, Julia Vogt, Kathrin Bengesser, Chuanhua Fu, Fady Mikhail, Eduard Serra, Carles Garcia-Linares, David N. Cooper, Conxi Lazaro, Hildegard Kehrer-Sawatzki

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 203 KB

english, 2011

14

Normal and transforming functions of RUNX1: A perspective

Fady M. Mikhail, Kislay K. Sinha, Yogen Saunthararajah, Giuseppina Nucifora

Journal:

Journal of Cellular Physiology

Année:

2006

Langue:

english

Fichier:

PDF, 264 KB

english, 2006

15

Two polymorphs of phenanthro[4,5-abc]phenazine-18-crown-6: Preparation, X-ray diffraction and DFT studies

Alexandr Fonari, Fadi M. Jradi, Marina S. Fonari, Mohammad H. Al-Sayah, Mikhail Yu. Antipin, Bilal R. Kaafarani, Tatiana V. Timofeeva

Journal:

Journal of Molecular Structure

Année:

2011

Langue:

english

Fichier:

PDF, 1004 KB

english, 2011

16

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

Rachel D. Burnside, Romela Pasion, Fady M. Mikhail, Andrew J. Carroll, Nathaniel H. Robin, Erin L. Youngs, Inder K. Gadi, Elizabeth Keitges, Vikram L. Jaswaney, Peter R. Papenhausen, Venkateswara R. P

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 1.68 MB

english, 2011

17

The leukemia-associated transcription repressor AML1/MDS1/EVI1 requires CtBP to induce abnormal growth and differentiation of murine hematopoietic cells

Senyuk, Vitalyi, Chakraborty, Soumen, Mikhail, Fady M, Zhao, Rui, Chi, Yiqing, Nucifora, Giuseppina

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 389 KB

english, 2002

18

In vivo regulation of the heme oxygenase-1 gene in humanized transgenic mice

Kim, Junghyun, Zarjou, Abolfazl, Traylor, Amie M, Bolisetty, Subhashini, Jaimes, Edgar A, Hull, Travis D, George, James F, Mikhail, Fady M, Agarwal, Anupam

Journal:

Kidney International

Année:

2012

Langue:

english

Fichier:

PDF, 631 KB

english, 2012

19

A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia

Fady M Mikhail, Kadreya A Serry, Nadia Hatem, Zeinab I Mourad, Hala M Farawela, Dalal M El Kaffash, Lionel Coignet, Giuseppina Nucifora

Journal:

Cancer Genetics and Cytogenetics

Année:

2002

Langue:

english

Fichier:

PDF, 249 KB

english, 2002

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

Année:

2011

Langue:

english

Fichier:

PDF, 744 KB

english, 2011

21

The RNA polymerase bridge helix YFI motif in catalysis, fidelity and translocation

Nedialkov, Yuri A., Opron, Kristopher, Assaf, Fadi, Artsimovitch, Irina, Kireeva, Maria L., Kashlev, Mikhail, Cukier, Robert I., Nudler, Evgeny, Burton, Zachary F.

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms

Année:

2013

Langue:

english

Fichier:

PDF, 1.94 MB

english, 2013

22

Transgenic Mice Overexpressing Neuregulin-1 Model Neurofibroma-Malignant Peripheral Nerve Sheath Tumor Progression and Implicate Specific Chromosomal Copy Number Variations in Tumorigenesis

Kazmi, Syed J., Byer, Stephanie J., Eckert, Jenell M., Turk, Amy N., Huijbregts, Richard P.H., Brossier, Nicole M., Grizzle, William E., Mikhail, Fady M., Roth, Kevin A., Carroll, Steven L.

Journal:

The American Journal of Pathology

Année:

2013

Langue:

english

Fichier:

PDF, 3.34 MB

english, 2013

23

A Case of Acute Promyelocytic Leukemia Without RARα Rearrangement and Apparently Normal Cytogenetics

Christos Vaklavas, Mark R. Steciuk, Yongsheng Ren, Melissa F. Baird, Fady M. Mikhail, James M. Foran

Journal:

Clinical Lymphoma Myeloma and Leukemia

Année:

2011

Langue:

english

Fichier:

PDF, 1.23 MB

english, 2011

24

Emery and Rimoin's Principles and Practice of Medical Genetics || Chromosomal Basis of Inheritance

Mikhail, Fady M.

Année:

2013

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2013

25

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

Année:

2014

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2014

26

SRF-106: Efficacy and safety of weight loss in the elderly after Roux-en Y gastric bypass vs laparoscopic gastric banding

Mikhail, Allen, Talarico, Joseph, Moustarah, Fady, Stalin, Vasanth, Gatmaitan, Patrick, Kroh, Matthew, Brethauer, Stacy A., Chand, Bipan, Schauer, Philip

Journal:

Surgery for Obesity and Related Diseases

Année:

2009

Langue:

english

Fichier:

PDF, 90 KB

english, 2009

27

THOMAS WAKLEY, *1THE FOUNDER OF " THE LANCET." A BIOGRAPHY.1

Mikhail, Allen, Talarico, Joseph, Moustarah, Fady, Stalin, Vasanth, Gatmaitan, Patrick, Kroh, Matthew, Brethauer, Stacy A., Chand, Bipan, Schauer, Philip

Journal:

Année:

1896

Langue:

english

Fichier:

PDF, 543 KB

english, 1896

28

P-03: Resolution of diabetes mellitus in an elderly patient population undergoing Roux-en-Y gastric bypass vs. laparoscopic gastric band

Talarico, Joseph, Zink, Jill, Cha, Amy, Mikhail, Allen, Moustarah, Fady, Kamoi, Kazumi, Stalin, Vasanth, Gatmaitan, Patrick, Chand, Bipan, Brethauer, Stacy A.

Journal:

Surgery for Obesity and Related Diseases

Année:

2009

Langue:

english

Fichier:

PDF, 129 KB

english, 2009

29

P-85: Laproscopic sleeve gastrectomy as a weight loss option in the elderly high-risk severely obese patient

Moustarah, Fady, Talarico, Joseph, Mikhail, Allen, Johnson, Shaneeta, Alchakaki, Abdulrazak F., Zink, Jill, Stalin, Vasanth, Kroh, Matthew, Tomasz, Rogula, Chand, Bipan

Journal:

Surgery for Obesity and Related Diseases

Année:

2009

Langue:

english

Fichier:

PDF, 83 KB

english, 2009

30

Neuregulin-1 overexpression andTrp53haploinsufficiency cooperatively promote de novo malignant peripheral nerve sheath tumor pathogenesis

Brosius, Stephanie N., Turk, Amy N., Byer, Stephanie J., Brossier, Nicole M., Kohli, Latika, Whitmire, Amber, Mikhail, Fady M., Roth, Kevin A., Carroll, Steven L.

Journal:

Acta Neuropathologica

Année:

2014

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2014

31

Incidental Detection of Cancer Predisposition Gene Copy Number Variations by Array Comparative Genomic Hybridization

Hamm, J. Austin, Mikhail, Fady M., Hollenbeck, Dana, Farmer, Meagan, Robin, Nathaniel H.

Journal:

The Journal of Pediatrics

Année:

2014

Langue:

english

Fichier:

PDF, 754 KB

english, 2014

32

Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene

Hsiao, Meng-Chang, Piotrowski, Arkadiusz, Alexander, John, Callens, Tom, Fu, Chuanhua, Mikhail, Fady M., Claes, Kathleen B.M., Messiaen, Ludwine

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 773 KB

english, 2014

33

Array comparative genomic hybridisation testing in CHD

Hightower, Hannah B., Robin, Nathaniel H., Mikhail, Fady M., Ambalavanan, Namasivayam

Journal:

Cardiology in the Young

Année:

2015

Langue:

english

Fichier:

PDF, 151 KB

english, 2015

34

Copy number variations and human genetic disease

Mikhail, Fady M.

Journal:

Current Opinion in Pediatrics

Année:

2014

Langue:

english

Fichier:

PDF, 252 KB

english, 2014

35

Identification of PKHD1 Multiexon Deletions Using Multiplex Ligation-Dependent Probe Amplification and Quantitative Polymerase Chain Reaction

Zvereff, Val, Yao, Suxia, Ramsey, Julia, Mikhail, Fady M., Vijzelaar, Raymon, Messiaen, Ludwine

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2010

Langue:

english

Fichier:

PDF, 1.90 MB

english, 2010

36

Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients With Cleft Lip and/or Palate

Rojnueangnit, Kitiwan, Mikhail, Fady M., Cui, Xiangqin, Yu, Shaohua, Robin, Nathaniel H.

Journal:

The Cleft Palate-Craniofacial Journal

Année:

2015

Langue:

english

Fichier:

PDF, 319 KB

english, 2015

37

Sex-discordant monochorionic twins with blood and tissue chimerism

Rodriguez-Buritica, David, Rojnueangnit, Kitiwan, Messiaen, Ludwine M., Mikhail, Fady M., Robin, Nathaniel H.

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2015

38

Partial trisomy 21: A fifty-year follow-up visit

Hamm, J. Austin, Carroll, Andrew J., Mikhail, Fady M., Korf, Bruce R., Finley, Wayne H.

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.97 MB

english, 2015

39

Identification of Large NF1 Duplications Reciprocal to NAHR-Mediated Type-1 NF1 Deletions

Kehrer-Sawatzki, Hildegard, Bengesser, Kathrin, Callens, Tom, Mikhail, Fady, Fu, Chuanhua, Hillmer, Morten, Walker, Martha E., Saal, Howard M., Lacassie, Yves, Cooper, David N., Messiaen, Ludwine

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 406 KB

english, 2014

40

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

Année:

2009

Langue:

english

Fichier:

PDF, 182 KB

english, 2009

41

Use of Array Comparative Genome Hybridization in Orofacial Clefting

Gallego, Carlos J., Grant, John, Mikhail, Fady M., Barger, Christina, Robin, Nathaniel H.

Journal:

Journal of Craniofacial Surgery

Année:

2010

Langue:

english

Fichier:

PDF, 465 KB

english, 2010

42

Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion

Williams, Crescenda L., Nelson, Katherine R., Grant, John H., Mikhail, Fady M., Robin, Nathaniel H.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 265 KB

english, 2016

43

Section E6.5–6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor–acquired chromosomal abnormalities

Cooley, Linda D., Morton, Cynthia C., Sanger, Warren G., Saxe, Debra F., Mikhail, Fady M.

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 399 KB

english, 2016

44

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

Année:

2016

Langue:

english

Fichier:

PDF, 3.08 MB

english, 2016

45

Buzz Juice: Neurological sequelae of synthetic cannabinoids

Kak, Manisha, Mikhail, Fadi, Yano, Sho T., Guan, Rui, Lukas, Rimas V.

Journal:

Journal of Clinical Neuroscience

Année:

2016

Langue:

english

Fichier:

PDF, 357 KB

english, 2016

46

Enhanced targeting of CML stem and progenitor cells by inhibition of porcupine acyltransferase in combination with TKI

Agarwal, Puneet, Zhang, Bin, Ho, Yinwei, Cook, Amy, Li, Ling, Mikhail, Fady M., Wang, Youzhen, McLaughlin, Margaret E., Bhatia, Ravi

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 805 KB

english, 2017

47

An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case report

Rosenblum, Frida, Koenig, Richard Gabriel, Mikhail, Fady M., Porterfield, John R., Nix, Jeffrey W., Eltoum, Isam-Eldin A.

Journal:

Diagnostic Cytopathology

Année:

2017

Langue:

english

Fichier:

PDF, 592 KB

english, 2017

48

Concomitant imatinib and ibrutinib in a patient with chronic myelogenous leukemia and chronic lymphocytic leukemia

Shea, Lauren K., Mikhail, Fady M., Forero-Torres, Andres, Davis, Randall S.

Journal:

Clinical Case Reports

Année:

2017

Langue:

english

Fichier:

PDF, 137 KB

english, 2017

49

Practice Guidelines for Genetic/Genomic Testing in Pediatric B-Lineage Acute Lymphoblastic Leukemia (B-ALL): A Cancer Genomics Consortium (CGC) Workgroup

Akkari, Yassmine, Baughn, Linda, Hagelstrom, R. Tanner, Hiemenz, Matt, Mikhail, Fady M., Shao, Lina, Hirsch, Betsy

Journal:

Cancer Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 51 KB

english, 2017

50

Classifying and Reporting Acquired Copy Number Variants (CNVs) and Copy Neutral Loss of Heterozygosity (CN-LOH) in Neoplastic Disorders: Joint Recommendations From the American College of Medical Genetics and Genomics (ACMG), and the Cancer Genomics Consortium (CGC)

Raca, Gordana, Biegel, Jaclyn, Cooley, Linda, Dubuc, Adrian, Hirsch, Betsy, Horner, Vanessa, Newman, Scott, Shao, Lina, Wolff, Daynna, Mikhail, Fady

Journal:

Cancer Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 63 KB

english, 2017