Saitta, Sulagna : 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 (30)
Les plus populaires
Liste
- Liste
- Tableau

1

Autosomal dominant inheritance of infantile myofibromatosis

Dina J. Zand, Dale Huff, David Everman, Karen Russell, Sulagna Saitta, Donna McDonald-McGinn, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 230 KB

english, 2004

2

Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care

Quindipan, Catherine, Cotter, Jennifer A., Ji, Jianling, Mitchell, Wendy G., Moke, Diana J., Navid, Fariba, Thomas, Stefanie M., VanHirtum-Das, Michele, Wang, Larry, Saitta, Sulagna C., Biegel, Jaclyn

Journal:

Pediatric Neurology

Année:

2021

Fichier:

PDF, 1.18 MB

2021

3

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome

Sulagna C. Saitta, Stacy E. Harris, Donna M. McDonald-McGinn, Beverly S. Emanuel, Melissa K. Tonnesen, Elaine H. Zackai, Suzanne C. Seitz, Deborah A. Driscoll

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 158 KB

english, 2004

4

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez-Lara, Merlin G. Butler, Elaine Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Je

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 803 KB

english, 2007

5

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

Emanuel, Beverly S., Saitta, Sulagna C.

Journal:

Nature Reviews Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2007

6

Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene

Hagit Baris, Bassem A. Bejjani, Wen-Hann Tan, David L. Coulter, Judith A. Martin, Andrea L. Storm, Barbara K. Burton, Sulagna C. Saitta, Marzena Gajecka, Blake C. Ballif, Mira B. Irons, Lisa G. Shaffe

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 127 KB

english, 2006

7

Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring

Nancy B. Spinner, Sulagna C. Saitta, Daniel P. Delaney, Raymond Colliton, Stephen A. Zderic, Eduardo Ruchelli, Elaine Zackai, Thomas F. Kolon

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 174 KB

english, 2008

8

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

Mary C. O'Driscoll, Kim Jenny, Sulagna Saitta, William B. Dobyns, Karen W. Gripp

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 189 KB

english, 2010

9

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints

Marzena Gajecka, Sulagna C. Saitta, Andrew J. Gentles, Lindsey Campbell, Karen Ciprero, Elizabeth Geiger, Anne Catherwood, Jill A. Rosenfeld, Tamim Shaikh, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 286 KB

english, 2010

10

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

Tracy Busse, John M. Graham Jr., Gerald Feldman, Juan Perin, Anne Catherwood, Robert Knowlton, Eric F. Rappaport, Beverly Emanuel, Deborah A. Driscoll, Sulagna C. Saitta

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 521 KB

english, 2011

11

MAP'ing CNS Development and Cognition: An ERKsome Process

Ivy S. Samuels, Sulagna C. Saitta, Gary E. Landreth

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 533 KB

english, 2009

12

A 22q11.2 Deletion That Excludes UFD1L and CDC45L in a Patient with Conotruncal and Craniofacial Defects

Sulagna C. Saitta, James M. McGrath, Holly Mensch, Tamim H. Shaikh, Elaine H. Zackai, Beverly S. Emanuel

Journal:

The American Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 234 KB

english, 1999

13

Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region

Izumi, Kosuke, Conlin, Laura K., Berrodin, Donna, Fincher, Christopher, Wilkens, Alisha, Haldeman-Englert, Chad, Saitta, Sulagna C., Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D.

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 727 KB

english, 2012

14

Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome

Bearden, Carrie, Jawad, Abbas, Lynch, David, Monterossso, John, Sokol, Set, McDonald-McGinn, Donna, Saitta, Sulagna, Harris, Stacy, Moss, Edward, Wang, Paul, Zackai, Elaine, Emanuel, Beverly, Simon, T

Journal:

Child Neuropsychology

Année:

2005

Langue:

english

Fichier:

PDF, 108 KB

english, 2005

15

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

Kalish, Jennifer M., Conlin, Laura K., Bhatti, Tricia R., Dubbs, Holly A., Harris, Mary Catherine, Izumi, Kosuke, Mostoufi-Moab, Sogol, Mulchandani, Surabhi, Saitta, Sulagna, States, Lisa J., Swarr, D

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2013

16

Effects of a Functional COMT Polymorphism on Prefrontal Cognitive Function in Patients With 22q11.2 Deletion Syndrome

Bearden, Carrie E., Jawad, Abbas F., Lynch, David R., Sokol, Set, Kanes, Steven J., McDonald-McGinn, Donna M., Saitta, Sulagna C., Harris, Stacy E., Moss, Edward, Wang, Paul P., Zackai, Elaine, Emanue

Journal:

American Journal of Psychiatry

Année:

2004

Langue:

english

Fichier:

PDF, 90 KB

english, 2004

17

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Shaffer, Lisa G, Theisen, Aaron, Bejjani, Bassem A, Ballif, Blake C, Aylsworth, Arthur S, Lim, Cynthia, McDonald, Marie, Ellison, Jay W, Kostiner, Dana, Saitta, Sulagna, Shaikh, Tamim

Journal:

Genetics in Medicine

Année:

2007

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2007

18

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

Boyle, Lia, Wamelink, Mirjam M.C., Salomons, Gajja S., Roos, Birthe, Pop, Ana, Dauber, Andrew, Hwa, Vivian, Andrew, Melissa, Douglas, Jessica, Feingold, Murray, Kramer, Nancy, Saitta, Sulagna, Rettere

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2016

19

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

Adams, Sara Anne, Coppinger, Justine, Saitta, Sulagna C, Stroud, Tracy, Kandamurugu, Manikum, Fan, Zheng, Ballif, Blake C, Shaffer, Lisa G, Bejjani, Bassem A

Journal:

Genetics in Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 690 KB

english, 2009

20

Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement

Hajek, Catherine, Wang, Jia-Chi, Mahon, Loretta W., Martinez, Ariadna, Saitta, Sulagna C.

Journal:

Molecular Syndromology

Année:

2016

Langue:

english

Fichier:

PDF, 322 KB

english, 2016

21

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma

Ji, Jianling, Quindipan, Catherine, Parham, David, Shen, Lishuang, Ruble, David, Bootwalla, Moiz, Maglinte, Dennis T., Gai, Xiaowu, Saitta, Sulagna C., Biegel, Jaclyn A., Mascarenhas, Leo

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2017

22

Response to the letter by Collins and Schimke

Morton, Sara Anne (Adams), Coppinger, Justine, Ballif, Blake C., Shaffer, Lisa G., Ellison, Jay W., Saitta, Sulagna C., Stroud, Tracy, Manickam, Kandamurugu, Fan, Zheng

Journal:

Genetics in Medicine

Année:

2011

Langue:

english

Fichier:

PDF, 78 KB

english, 2011

23

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

Levin, Mark D., Saitta, Sulagna C., Gripp, Karen W., Wenger, Tara L., Ganesh, Jaya, Kalish, Jennifer M., Epstein, Michael R., Smith, Rosemarie, Czosek, Richard J., Ware, Stephanie M., Goldenberg, Paul

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2018

24

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome)

Kuo, Caroline Y., Signer, Rebecca, Saitta, Sulagna C.

Journal:

Current Allergy and Asthma Reports

Année:

2018

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2018

25

Avery's Diseases of the Newborn || Evaluation of the Dysmorphic Infant

Saitta, Sulagna C.

Année:

2005

Langue:

english

Fichier:

PDF, 913 KB

english, 2005

26

Embryonal Rhabdomyosarcoma In a Patient With a Germline CBL Pathogenic Variant

Ji, Jianling, Navid, Fariba, Hiemenz, Mathew C., Kaneko, Maki, Zhou, Shengmei, Saitta, Sulagna, Biegel, Jaclyn A.

Journal:

Cancer Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2018

27

A semi-automated whole exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants

Ji, Jianling, Shen, Lishuang, Bootwalla, Moiz, Quindipan, Catherine, Tatarinova, Tatiana, Maglinte, Dennis T, Buckley, Jonathan, Raca, Gordana, Saitta, Sulagna C, Biegel, Jaclyn A, Gai, Xiaowu

Journal:

Molecular Case Studies

Année:

2019

Fichier:

PDF, 707 KB

2019

28

A semi-automated whole exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants

Ji, Jianling, Shen, Lishuang, Bootwalla, Moiz, Quindipan, Catherine, Tatarinova, Tatiana, Maglinte, Dennis T, Buckley, Jonathan, Raca, Gordana, Saitta, Sulagna C, Biegel, Jaclyn A, Gai, Xiaowu

Journal:

Molecular Case Studies

Année:

2019

Langue:

english

Fichier:

PDF, 707 KB

english, 2019

29

A De Novo Mutation Associated with Epilepsy Enhances KV1.2 Voltage Dependence, Suppressing Neuronal Excitability

Pantazis, Antonios, Kaneko, Maki, Westerlund, Annie M., Delemotte, Lucie, Saitta, Sulagna, Olcese, Riccardo

Journal:

Biophysical Journal

Année:

2019

Langue:

english

Fichier:

PDF, 47 KB

english, 2019

30

Tracking the motion of K V 1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy

Pantazis, Antonios, Kaneko, Maki, Angelini, Marina, Steccanella, Federica, Westerlund, Annie M., LindstrÃ¶m, Sarah H., Nilsson, Michelle, Delemotte, Lucie, Saitta, Sulagna C., Olcese, Riccardo

Journal:

The Journal of Physiology

Année:

2020

Fichier:

PDF, 4.46 MB

2020