Tamim Shaikh: search on Z-Library

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1

Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies

Elizabeth Goldmuntz, Prasuna Paluru, Joseph Glessner, Hakon Hakonarson, Jaclyn A. Biegel, Peter S. White, Xiaowu Gai, Tamim H. Shaikh

Journal:

Congenital Heart Disease

Year:

2011

Language:

english

File:

PDF, 413 KB

english, 2011

2

Sequence diversity and chromosomal distribution of “young” Alu repeats

Santosh S. Arcot, Tamim H. Shaikh, Joomyeong Kim, Lesley Bennett, Michelle Alegria-Hartman, David O. Nelson, Prescott L. Deininger, Mark A. Batzer

Journal:

Year:

1995

Language:

english

File:

PDF, 552 KB

english, 1995

3

The Constitutional t(17;22): Another Translocation Mediated by Palindromic AT-Rich Repeats

Hiroki Kurahashi, Tamim Shaikh, Masayuki Takata, Tatsushi Toda, Beverly S. Emanuel

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.03 MB

english, 2003

4

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay

Chad R. Haldeman-Englert, Xiaowu Gai, Juan Carlos Perin, Melissa Ciano, Sara S. Halbach, Elizabeth A. Geiger, Donna M. McDonald-McGinn, Hakon Hakonarson, Elaine H. Zackai, Tamim H. Shaikh

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 239 KB

english, 2009

5

X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

Scalais, Emmanuel, Osterheld, Elise, Weitzel, Christiane, De Meirleir, Linda, Mataigne, Frederic, Martens, Geert, Shaikh, Tamim H., Coughlin, Curtis R., Yu, Hung-Chun, Swanson, Michael, Friederich, Ma

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 2.10 MB

english, 2017

6

Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies

Margaret J. Dougherty, Donna M. Wilmoth, Laura S. Tooke, Tamim H. Shaikh, Xiaowu Gai, Hakon Hakonarson, Jaclyn A. Biegel

Journal:

Cancer Genetics

Year:

2011

Language:

english

File:

PDF, 1.70 MB

english, 2011

7

The role and amplification of the HS Alu subfamily founder gene

Tamim H. Shaikh, Prescott L. Deininger

Journal:

Journal of Molecular Evolution

Year:

1996

Language:

english

File:

PDF, 794 KB

english, 1996

8

Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families

Tamim H. Shaikh, Marcia L. Budarf, Livija Celle, Elaine H. Zackai, Beverly S. Emanuel

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 553 KB

english, 1999

9

Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies

Shaikh, Tamim H

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 1.17 MB

english, 2007

10

Abnormal expression of GABA A receptor subunits and hypomotility upon loss of gabra1 in zebrafish

Reyes-Nava, Nayeli G., Yu, Hung-Chun, Coughlin, Curtis R., Shaikh, Tamim H., Quintana, Anita M.

Journal:

Year:

2020

File:

PDF, 2.41 MB

2020

11

African Origin of Human-Specific Polymorphic Alu Insertions

Mark A. Batzer, Mark Stoneking, Michelle Alegria-Hartman, Hernan Bazan, David H. Kass, Tamim H. Shaikh, Gabriel E. Novick, Panayiotis A. Ioannou, W. Douglas Scheer, Rene J. Herrera and Prescott L. Dei

Journal:

Proceedings of the National Academy of Sciences

Year:

1994

Language:

english

File:

PDF, 1005 KB

english, 1994

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

Year:

1999

Language:

english

File:

PDF, 234 KB

english, 1999

13

4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome

Calhoun, Jeffrey Dennis, Gunti, Jonathan, Angione, Katie, Geiger, Elizabeth, Eschbach, Krista, Smith, Garnett, Joshi, Charuta, Shaikh, Tamim, Demarest, Scott, Carvill, Gemma

Journal:

Journal of Clinical and Translational Science

Year:

2020

File:

PDF, 56 KB

2020

14

SEGMENTAL DUPLICATIONS: AN 'EXPANDING' ROLE IN GENOMIC INSTABILITY AND DISEASE

Emanuel, Beverly S., Shaikh, Tamim H.

Journal:

Nature Reviews Genetics

Year:

2001

Language:

english

File:

PDF, 641 KB

english, 2001

15

Dispersion and Insertion Polymorphism in Two Small Subfamilies of Recently Amplified HumanAluRepeats

Mark A. Batzer, Carol M. Rubin, Utha Hellmann-Blumberg, Michelle Alegria-Hartman, Esther P. Leeflang, Joshua D. Stern, Hernan A. Bazan, Tamim H. Shaikh, Prescott L. Deininger, Carl W. Schmid

Journal:

Journal of Molecular Biology

Year:

1995

Language:

english

File:

PDF, 701 KB

english, 1995

16

Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features

Izumi, Kosuke, Housam, Ryan, Kapadia, Chirag, Stallings, Virginia A., Medne, Livija, Shaikh, Tamim H., Kublaoui, Bassil M., Zackai, Elaine H., Grimberg, Adda

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 2.62 MB

english, 2013

17

[IEEE 2017 IEEE Global Humanitarian Technology Conference (GHTC) - San Jose, CA, USA (2017.10.19-2017.10.22)] 2017 IEEE Global Humanitarian Technology Conference (GHTC) - Real time injecting device with automated robust vein detection using near infrared camera and live video

Ahmed, Tamim, Rahman, Khandker Sadia, Shawlin, Sk Subrina, Hasan, Mohammad, Bhattacharjee, Arnab, Fattah, Shaikh Anowarul, Shahnaz, Celia

Year:

2017

Language:

english

File:

PDF, 476 KB

english, 2017

18

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

Year:

2010

Language:

english

File:

PDF, 286 KB

english, 2010

19

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

Jeffrey E. Ming, Elizabeth Geiger, Alison C. James, Karen L. Ciprero, Manjunath Nimmakayalu, Yi Zhang, Andrew Huang, Madhavi Vaddi, Eric Rappaport, Elaine H. Zackai, Tamim H. Shaikh

Journal:

Year:

2006

Language:

english

File:

PDF, 251 KB

english, 2006

20

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor

Eric M. Jackson, Tamim H. Shaikh, Sridharan Gururangan, Marilyn C. Jones, David Malkin, Sarah M. Nikkel, Craig W. Zuppan, Luanne M. Wainwright, Fan Zhang, Jaclyn A. Biegel

Journal:

Year:

2007

Language:

english

File:

PDF, 471 KB

english, 2007

21

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage

Jennifer J.D. Morrissette, Livija Medne, Tyrone Bentley, Nancy L. Owens, Elizabeth Geiger, Mary Pipan, Elaine H. Zackai, Tamim Shaikh, Nancy B. Spinner

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 123 KB

english, 2005

22

Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

A. Reghan Foley, Ying Hu, Yaqun Zou, Michele Yang, Līvija Medne, Meganne Leach, Laura K. Conlin, Nancy Spinner, Tamim H. Shaikh, Marni Falk, Ann M. Neumeyer, Laurie Bliss, Brian S. Tseng, Thomas L. Wi

Journal:

Annals of Neurology

Year:

2011

Language:

english

File:

PDF, 1.02 MB

english, 2011

23

A de novo 8.8-Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21

Chad R. Haldeman-Englert, Kimberly A. Chapman, Hillary Kruger, Elizabeth A. Geiger, Donna M. McDonald-McGinn, Eric Rappaport, Elaine H. Zackai, Nancy B. Spinner, Tamim H. Shaikh

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 175 KB

english, 2010

24

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

Curtis R Coughlin II,Gunter H Scharer,Tamim H Shaikh

Journal:

Genome Medicine

Year:

2012

Language:

english

File:

PDF, 185 KB

english, 2012

25

cDNAs derived from primary and small cytoplasmic Alu (scAlu) transcripts

Tamim H Shaikh, Astrid M Roy, Joomyeong Kim, Mark A Batzer, Prescott L Deininger

Journal:

Journal of Molecular Biology

Year:

1997

Language:

english

File:

PDF, 384 KB

english, 1997

26

Structure and variability of recently inserted Alu family members

Batzer, Mark A., Kilroy, Gail E., Richard, Pamela E., Shaikh, Tamim H., Desselle, Trent D., Hoppens, Carol L., Deininger, Prescott L.

Journal:

Nucleic Acids Research

Year:

1990

Language:

english

File:

PDF, 531 KB

english, 1990

27

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B

Yu, Hung-Chun, Geiger, Elizabeth A., Medne, Livija, Zackai, Elaine H., Shaikh, Tamim H.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.29 MB

english, 2014

28

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

Year:

2007

Language:

english

File:

PDF, 1.64 MB

english, 2007

29

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly

Hu, Tommy, Kruszka, Paul, Martinez, Ariel F., Ming, Jeffrey E., Shabason, Emily K., Raam, Manu S., Shaikh, Tamim H., Pineda-Alvarez, Daniel E., Muenke, Maximilian

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.22 MB

english, 2018

30

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression

Quintana, Anita M., Geiger, Elizabeth A., Achilly, Nate, Rosenblatt, David S., Maclean, Kenneth N., Stabler, Sally P., Artinger, Kristin B., Appel, Bruce, Shaikh, Tamim H.

Journal:

Developmental Biology

Year:

2014

Language:

english

File:

PDF, 10.64 MB

english, 2014

31

The co-occurrence of Down syndrome and autism spectrum disorder: is it due to additional genetic variations?

Rachubinski, Angela L., Hepburn, Susan, Elias, Ellen R., Gardiner, Katheleen, Shaikh, Tamim H.

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 783 KB

english, 2016

32

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth S. Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorko

Journal:

Year:

2012

Language:

english

File:

PDF, 848 KB

english, 2012

33

Copy Number Variation Disorders

Shaikh, Tamim H.

Journal:

Current Genetic Medicine Reports

Year:

2017

Language:

english

File:

PDF, 437 KB

english, 2017

34

Atypical teratoid/rhabdoid tumor in a patient with Beckwith–Wiedemann syndrome

Eric M. Jackson, Tamim H. Shaikh, Fan Zhang, Luanne M. Wainwright, Phillip B. Storm, Hakon Hakonarson, Elaine H. Zackai, Jaclyn A. Biegel

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 101 KB

english, 2007

35

SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

Binita M. Kamath, Brian D. Thiel, Xiaowu Gai, Laura K. Conlin, Pedro S. Munoz, Joseph Glessner, Dinah Clark, Daniel M. Warthen, Tamim H. Shaikh, Ercan Mihci, David A. Piccoli, Struan F.A. Grant, Hakon

Journal:

Year:

2009

Language:

english

File:

PDF, 400 KB

english, 2009

36

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome

Delio, Maria, Pope, Kathleen, Wang, Tao, Samanich, Joy, Haldeman-Englert, Chad R., Kaplan, Paige, Shaikh, Tamim H., Cai, Jinlu, Marion, Robert W., Morrow, Bernice E., Babcock, Melanie

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 611 KB

english, 2013

37

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review

Shaikh, Tamim H, Kurahashi, Hiroki, Emanuel, Beverly S

Journal:

Genetics in Medicine

Year:

2001

Language:

english

File:

PDF, 1.26 MB

english, 2001

38

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

Chad R. Haldeman-Englert, Taiyabah Naeem, Elizabeth A. Geiger, Ashley Warnock, Holly Feret, Melissa Ciano, Stefanie L. Davidson, Matthew A. Deardorff, Elaine H. Zackai, Tamim H. Shaikh

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 118 KB

english, 2009

39

Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22)

Hiroki Kurahashi, Tamim H. Shaikh, Elaine H. Zackai, Livija Celle, Deborah A. Driscoll, Marcia L. Budarf, Beverly S. Emanuel

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 612 KB

english, 2000

40

Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates

Hidehito Inagaki, Tamae Ohye, Hiroshi Kogo, Kouji Yamada, Hiroe Kowa, Tamim H. Shaikh, Beverly S. Emanuel, Hiroki Kurahashi

Journal:

Year:

2005

Language:

english

File:

PDF, 605 KB

english, 2005

41

Characterization ofCDC45L:a gene in the 22q11.2 deletion region expressed during murine and human development

Tamim H. Shaikh, Shoshanna Gottlieb, Beatrice Sellinger, Feng Chen, Bruce A. Roe, Rebecca J. Oakey, Beverly S. Emanuel, Marcia L. Budarf

Journal:

Mammalian Genome

Year:

1999

Language:

english

File:

PDF, 2.13 MB

english, 1999

42

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion, suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

Yu, Hung-Chun, Coughlin, Curtis, Geiger, Elizabeth, Salvador, Blake, Elias, Ellen, Cavanaugh, Jean, Chatfield, Kathryn, Miyamoto, Shelley, Shaikh, Tamim H.

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 3.92 MB

english, 2016

43

[IEEE 2017 IEEE International WIE Conference on Electrical and Computer Engineering (WIECON-ECE) - Dehradun, India (2017.12.18-2017.12.19)] 2017 IEEE International WIE Conference on Electrical and Computer Engineering (WIECON-ECE) - Auto-HRID: Automated Heart Rate Monitoring and Injecting Device with Precise Vein Detection

Ahmed, Tamim, Rahman, Khandker Sadia, Shawlin, Subrina, Hasan, Mohammad, Bhattacharjee, Arnab, Fattah, Shaikh Anowarul, Shahnaz, Celia

Year:

2017

Language:

english

File:

PDF, 1.94 MB

english, 2017

44

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

Xiaowu Gai, Juan C Perin, Kevin Murphy, Ryan O'Hara, Monica D'arcy, Adam Wenocur, Hongbo M Xie, Eric F Rappaport, Tamim H Shaikh, Peter S White

Journal:

BMC Bioinformatics

Year:

2010

Language:

english

File:

PDF, 650 KB

english, 2010

45

Duplication of 7q34 in Pediatric Low-Grade Astrocytomas Detected by High-Density Single-Nucleotide Polymorphism-Based Genotype Arrays Results in a Novel BRAF Fusion Gene

Angela J. Sievert, Eric M. Jackson, Xiaowu Gai, Hakon Hakonarson, Alexander R. Judkins, Adam C. Resnick, Leslie N. Sutton, Phillip B. Storm, Tamim H. Shaikh, Jaclyn A. Biegel

Journal:

Brain Pathology

Year:

2009

Language:

english

File:

PDF, 561 KB

english, 2009

46

Construction of a 780-kb PAC, BAC, and Cosmid Contig Encompassing the Minimal Critical Deletion Involved in B Cell Chronic Lymphocytic Leukemia at 13q14.3

Isabelle Bouyge-Moreau, Gaëlle Rondeau, Hervé Avet-Loiseau, Marie-Thérèse André, Stéphane Bézieau, Michel Chérel, Sylvie Saleün, Emmanuelle Cadoret, Tamim Shaikh, Margaret M. De Angelis, Santosh Arcot

Journal:

Year:

1997

Language:

english

File:

PDF, 290 KB

english, 1997

47

Kabuki syndrome genes KMT2D and KDM6A : functional analyses demonstrate critical roles in craniofacial, heart and brain development

Van Laarhoven, Peter M., Neitzel, Leif R., Quintana, Anita M, Geiger, Elizabeth A., Zackai, Elaine H., Clouthier, David E., Artinger, Kristin B., Ming, Jeffrey E., Shaikh, Tamim H.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 818 KB

english, 2015

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