Rosenfeld, Jill A.: шукати на сайті Z-Library

Proceedings of the National Academy of Sciences

Рік:

2013

Мова:

english

Файл:

PDF, 395 KB

english, 2013

A copy number variation morbidity map of developmental delay

Cooper, Gregory M, Coe, Bradley P, Girirajan, Santhosh, Rosenfeld, Jill A, Vu, Tiffany H, Baker, Carl, Williams, Charles, Stalker, Heather, Hamid, Rizwan, Hannig, Vickie, Abdel-Hamid, Hoda, Bader, Pat

Журнал:

Nature Genetics

Рік:

2011

Мова:

english

Файл:

PDF, 1.12 MB

english, 2011

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Rosenfeld, Jill A, Leppig, Kathleen, Ballif, Blake C, Thiese, Heidi, Erdie-Lalena, Christine, Bawle, Erwati, Sastry, Sujatha, Spence, J Edward, Bandholz, Anne, Surti, Urvashi, Zonana, Jonathan, Keller

Журнал:

Genetics in Medicine

Рік:

2009

Мова:

english

Файл:

PDF, 1.02 MB

english, 2009

Symptom Clusters in Acute Myocardial Infarction

Ryan, Catherine J., DeVon, Holli A., Horne, Rob, King, Kathleen B., Milner, Kerry, Moser, Debra K., Quinn, Jill R., Rosenfeld, Anne, Hwang, Seon Young, Zerwic, Julie J.

Журнал:

Nursing Research

Рік:

2007

Мова:

english

Файл:

PDF, 319 KB

english, 2007

Targeted knockout of a chemokine-like gene increases anxiety and fear responses

Choi, Jung-Hwa, Jeong, Yun-Mi, Kim, Sujin, Lee, Boyoung, Ariyasiri, Krishan, Kim, Hyun-Taek, Jung, Seung-Hyun, Hwang, Kyu-Seok, Choi, Tae-Ik, Park, Chul O, Huh, Won-Ki, Carl, Matthias, Rosenfeld, Jill

Журнал:

Рік:

2018

Мова:

english

Файл:

PDF, 2.01 MB

english, 2018

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

Tokita, Mari J., Chen, Chun-An, Chitayat, David, Macnamara, Ellen, Rosenfeld, Jill A., Hanchard, Neil, Lewis, Andrea M., Brown, Chester W., Marom, Ronit, Shao, Yunru, Novacic, Danica, Wolfe, Lynne, Wa

Журнал:

Рік:

2018

Мова:

english

Файл:

PDF, 1.31 MB

english, 2018

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Kim, Hyung-Goo, Rosenfeld, Jill A., Scott, Daryl A., Bénédicte, Gerard, Labonne, Jonathan D., Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des

Журнал:

Molecular Autism

Рік:

2019

Мова:

english

Файл:

PDF, 12.50 MB

english, 2019

Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

Gu, Shen, Chen, Chun‐An, Rosenfeld, Jill A., Cope, Heidi, Launay, Nathalie, Flanigan, Kevin, Waldrop, Megan, Schrader, Rachel, Juusola, Jane, Goker‐Alpan, Ozlem, Milunsky, Aubrey, Schlüter, Agatha, Tr

Журнал:

Human Mutation

Рік:

2019

Мова:

english

Файл:

PDF, 378 KB

english, 2019

Variants in ALX4 and Their Association with Genitourinary Defects

Chen, Ching H., Bournat, Juan C., Wilken, Nathan, Rosenfeld, Jill A., Zhang, Jason, Seth, Abhishek, Jorgez, Carolina J.

Журнал:

Andrology

Рік:

2020

Файл:

PDF, 13.25 MB

2020

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism

Li, Chunmei, Beauregard-Lacroix, Eliane, Kondratev, Christine, Rousseau, Justine, Heo, Ah Jung, Neas, Katherine, Graham, Brett H., Rosenfeld, Jill A., Bacino, Carlos A., Wagner, Matias, Wenzel, Maren,

Журнал:

Aaron Theisen, Jill A. Rosenfeld, Sandra A. Farrell, Catharine J. Harris, Heather H. Wetzel, Beth A. Torchia, Bassem A. Bejjani, Blake C. Ballif, Lisa G. Shaffer

Рік:

2021

Файл:

PDF, 4.13 MB

2021

aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy

Журнал:

Рік:

2009

Мова:

english

Файл:

PDF, 146 KB

english, 2009

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features

Arie Koifman, Annette Feigenbaum, Weimin Bi, Lisa G. Shaffer, Jill Rosenfeld, Susan Blaser, David Chitayat

Журнал:

Anna K. McGill, Matthew T. Pastore, Gail E. Herman, Sarah Alliman, Jill A. Rosenfeld, David D. Weaver

Рік:

2010

Мова:

english

Файл:

PDF, 213 KB

english, 2010

A tale of two deletions: A report of two novel 20p13 → pter deletions

Журнал:

Рік:

2010

Мова:

english

Файл:

PDF, 330 KB

english, 2010

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

Jill A. Rosenfeld, John A. Crolla, Susan Tomkins, Patricia Bader, Bernice Morrow, Jerome Gorski, Robin Troxell, Cynthia Forster-Gibson, Deirdre Cilliers, R. Gordon Hislop, Allen Lamb, Beth Torchia, Bl

Журнал:

Рік:

2010

Мова:

english

Файл:

PDF, 434 KB

english, 2010

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

Журнал:

Рік:

2010

Мова:

english

Файл:

PDF, 286 KB

english, 2010

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation

Anne M. Slavotinek, Jill A. Rosenfeld, Ryan Chao, Dimitry Niyazov, Marthand Eswara, Patricia I. Bader, David W. Stockton, Pawel Stankiewicz, Margaret P. Adam

Журнал:

Рік:

2011

Мова:

english

Файл:

PDF, 151 KB

english, 2011

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

Deepika D'Cunha Burkardt, Jill A. Rosenfeld, Maria L. Helgeson, Brad Angle, Valerie Banks, Wendy E. Smith, Karen W. Gripp, Jessica Moline, Rocio T. Moran, Dmitriy M. Niyazov, Cathy A. Stevens, Elaine

Журнал:

Рік:

2011

Мова:

english

Файл:

PDF, 3.61 MB

english, 2011

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

Jill A. Rosenfeld, Joanne Milisa Drautz, Carol L. Clericuzio, Tom Cushing, Salmo Raskin, Judith Martin, Raymond C. Tervo, Jose A. Pitarque, Dorota M. Nowak, Justyna A. Karolak, Allen N. Lamb, Roger A.

Журнал:

Fabio Rueda Faucz, Josiane Souza, Aguinaldo Bonalumi Filho, Vanessa Santos Sotomaior, Egon Frantz, Sergio Antoniuk, Jill A. Rosenfeld, Salmo Raskin

Рік:

2011

Мова:

english

Файл:

PDF, 2.42 MB

english, 2011

Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?

Журнал:

Рік:

2011

Мова:

english

Файл:

PDF, 162 KB

english, 2011

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay

Trilochan Sahoo, Aaron Theisen, Michael Marble, Raymond Tervo, Jill A. Rosenfeld, Beth S. Torchia, Lisa G. Shaffer

Журнал:

Audrey L. Bibb, Jill A. Rosenfeld, David D. Weaver

Рік:

2011

Мова:

english

Файл:

PDF, 1.01 MB

english, 2011

Report of a mother and daughter with the 12q14 microdeletion syndrome

Журнал:

Edna S. Kaneshiro, Jill A. Rosenfeld, Mireille Basselin-Eiweida, James R. Stringer, Scott P. Keely, A. George Smulian, José-Luis Giner

Рік:

2012

Мова:

english

Файл:

PDF, 327 KB

english, 2012

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy Stevens, Loren Mackay-Loder, Deborah

Журнал:

Human Mutation

Рік:

2012

Мова:

english

Файл:

PDF, 475 KB

english, 2012

The Pneumocystis carinii drug target S-adenosyl-L-methionine:sterol C-24 methyl transferase has a unique substrate preference

Журнал:

Molecular Microbiology

Рік:

2002

Мова:

english

Файл:

PDF, 404 KB

english, 2002

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

Ryan N Traylor, Zheng Fan, Beth Hudson, Jill A Rosenfeld, Lisa G Shaffer, Beth S Torchia, Blake C Ballif

Журнал:

Molecular Cytogenetics

Рік:

2009

Мова:

english

Файл:

PDF, 943 KB

english, 2009

Linkage for a locus of human complement C5 deficiency to the complement C6 structural locus

Stephen I. Rosenfeld, Lowell R. Weitkamp, Jill K. Countryman

Журнал:

Immunogenetics

Рік:

1978

Мова:

english

Файл:

PDF, 380 KB

english, 1978

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE

Jill A. Rosenfeld, Blake C. Ballif, Donna M. Martin, Arthur S. Aylsworth, Bassem A. Bejjani, Beth S. Torchia, Lisa G. Shaffer

Журнал:

Human Genetics

Рік:

2010

Мова:

english

Файл:

PDF, 817 KB

english, 2010

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

Blake C. Ballif, Jill A. Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I. Bader, Roger L. Ladda, Susan L. Sell, Michelle Steinraths, Urvashi Surti, Marianne McGuire, Shelley Williams, Sandra A. Far

Журнал:

Human Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 771 KB

english, 2012

Pneumocystis carinti erg6 Gene: Sequencing and Expression of Recombinant SAM:Sterol Methyltransferase in Heterologous Systems

EDNA S. KANESHIRO, JILL A. ROSENFELD, MIREILLE BASSELIN, SUZANNE BRADSHAW, JAMES R. STRINGER, A. GEORGE SMULIAN, JOSÉ-L. GINER

Журнал:

Journal of Eukaryotic Microbiology

Рік:

2001

Мова:

english

Файл:

PDF, 376 KB

english, 2001

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

Williams, Stephen R, Mullegama, Sureni V, Rosenfeld, Jill A, Dagli, Aditi I, Hatchwell, Eli, Allen, William P, Williams, Charles A, Elsea, Sarah H

Журнал:

European Journal of Human Genetics

Рік:

2009

Мова:

english

Файл:

PDF, 448 KB

english, 2009

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

Rosenfeld, Jill A, Stephens, Lindsey E, Coppinger, Justine, Ballif, Blake C, Hoo, Joe J, French, Beatrice N, Banks, Valerie C, Smith, Wendy E, Manchester, David, Tsai, Anne Chun-Hui

Журнал:

European Journal of Human Genetics

Рік:

2011

Мова:

english

Файл:

PDF, 664 KB

english, 2011

Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

Megan Y. Dennis, Xander Nuttle, Peter H. Sudmant, Francesca Antonacci, Tina A. Graves, Mikhail Nefedov, Jill A. Rosenfeld, Saba Sajjadian, Maika Malig, Holland Kotkiewicz, Cynthia J. Curry, Susan Shaf

Журнал:

Cell

Рік:

2012

Мова:

english

Файл:

PDF, 895 KB

english, 2012

Referral patterns for microarray testing in prenatal diagnosis

Lisa G. Shaffer, Mindy Preston Dabell, Jill A. Rosenfeld, Nicholas J. Neill, Blake C. Ballif, Justine Coppinger, Noa Rinzler Diwan, Karen Chong, Mordechai Shohat, David Chitayat

Журнал:

George McGillivray, Jill A Rosenfeld, R. J. McKinlay Gardner, Lynn H. Gillam

Рік:

2012

Мова:

english

Файл:

PDF, 201 KB

english, 2012

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

Журнал:

Рік:

2012

Мова:

english

Файл:

PDF, 110 KB

english, 2012

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

Lisa G. Shaffer, Jill A. Rosenfeld, Mindy P. Dabell, Justine Coppinger, Anne M. Bandholz, Jay W. Ellison, J. Britt Ravnan, Beth S. Torchia, Blake C. Ballif, Allan J. Fisher

Журнал:

Рік:

2012

Мова:

english

Файл:

PDF, 366 KB

english, 2012

Referral patterns for microarray testing in prenatal diagnosis

Lisa G. Shaffer, Mindy Preston Dabell, Jill A. Rosenfeld, Nicholas J. Neill, Blake C. Ballif, Justine Coppinger, Noa Rinzler Diwan, Karen Chong, Mordechai Shohat, David Chitayat

Журнал:

Рік:

2012

Файл:

PDF, 37 KB

2012

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

Lisa G. Shaffer, Mindy P. Dabell, Allan J. Fisher, Justine Coppinger, Anne M. Bandholz, Jay W. Ellison, J. Britt Ravnan, Beth S. Torchia, Blake C. Ballif, Jill A. Rosenfeld

Журнал:

Рік:

2012

Мова:

english

Файл:

PDF, 466 KB

english, 2012

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

Jill A. Rosenfeld, Dina Amrom, Eva Andermann, Frederick Andermann, Martin Veilleux, Cynthia Curry, Jamie Fisher, Stephen Deputy, Arthur S. Aylsworth, Cynthia M. Powell, Kandamurugu Manickam, Bryce Hee

Журнал:

neurogenetics

Рік:

2012

Мова:

english

Файл:

PDF, 1.48 MB

english, 2012

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

Blake C. Ballif, Aaron Theisen, Jill A. Rosenfeld, Ryan N. Traylor, Julie Gastier-Foster, Devon Lamb Thrush, Caroline Astbury, Dennis Bartholomew, Kim L. McBride, Robert E. Pyatt, Kate Shane, Wendy E.

Журнал:

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena A. Repnikova, Julie Gastier-Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colb

Рік:

2010

Мова:

english

Файл:

PDF, 726 KB

english, 2010

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Журнал:

Рік:

2011

Мова:

english

Файл:

PDF, 905 KB

english, 2011

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

Журнал:

Рік:

2012

Мова:

english

Файл:

PDF, 263 KB

english, 2012

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

Cheryl DeScipio, Laura Conlin, Jill Rosenfeld, James Tepperberg, Romela Pasion, Ankita Patel, Marie T. McDonald, Swaroop Aradhya, Darlene Ho, Jennifer Goldstein, Marianne McGuire, Surabhi Mulchandani,

Журнал: