Ian Krantz : rechercher sur Z-Library

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1

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Mandl, Kenneth D., Glauser, Tracy, Krantz, Ian D., Avillach, Paul, Bartels, Anna, Beggs, Alan H., Biswas, Sawona, Bourgeois, Florence T., Corsmo, Jeremy, Dauber, Andrew, Devkota, Batsal, Fleisher, Gar

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 2.32 MB

english, 2019

2

Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion

Ayala Laufer-Cahana, Ian D. Krantz, Lynn D. Bason, Feng-Min Lu, David A. Piccoli, Nancy B. Spinner

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 141 KB

english, 2002

3

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic

Dinah Yaeger, Jennifer McCallum, Kathy Lewis, Lisa Soslow, Udayan Shah, William Potsic, Catherine Stolle, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 131 KB

english, 2006

4

Assessing parental attitudes toward genetic testing for childhood hearing loss: Before and after genetic consultation

Yuelin Li, Annie G. Steinberg, Lisa Bain, Dinah Yaeger, Ari Bieler, Rachel Ewing, Girija Kaimal, Ian Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 141 KB

english, 2007

5

SPATA5mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami

Journal:

Orphanet Journal of Rare Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2016

6

A taxonomy of medical uncertainties in clinical genome sequencing

Han, Paul K.J., Umstead, Kendall L., Bernhardt, Barbara A., Green, Robert C., Joffe, Steven, Koenig, Barbara, Krantz, Ian, Waterston, Leo B., Biesecker, Leslie G., Biesecker, Barbara B.

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 886 KB

english, 2017

7

Comparative cardiopulmonary effects of particulate matter- and ozone-enhanced smog atmospheres in mice

Hazari, Mehdi, Stratford, Kimberly, Krantz, Q. Todd, King, Charly, Krug, Jonathan, Farraj, Aimen, Gilmour, M. Ian

Journal:

Environmental Science & Technology

Année:

2018

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2018

8

Changes in Functional Connectivity Predict Outcome of Repetitive Transcranial Magnetic Stimulation Treatment of Major Depressive Disorder

Corlier, Juliana, Wilson, Andrew, Hunter, Aimee M, Vince-Cruz, Nikita, Krantz, David, Levitt, Jennifer, Minzenberg, Michael J, Ginder, Nathaniel, Cook, Ian A, Leuchter, Andrew F

Journal:

Cerebral Cortex

Année:

2019

Langue:

english

Fichier:

PDF, 720 KB

english, 2019

9

Deletions of 20p12 in Alagille syndrome: Frequency and molecular characterization

Krantz, Ian D., Rand, Elizabeth B., Genin, Anna, Hunt, Piper, Jones, Marilyn, Louis, Anthonise A., Graham, John M., Bhatt, Sucheta, Piccoli, David A., Spinner, Nancy B.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 324 KB

english, 1997

10

Jagged1 mutations in patients ascertained with isolated congenital heart defects

Krantz, Ian D., Smith, Rosemarie, Colliton, Ray P., Tinkel, Hilary, Zackai, Elaine H., Piccoli, David A., Goldmuntz, Elizabeth, Spinner, Nancy B.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 2.51 MB

english, 1999

11

Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

Livija Celle, Laura Lee, Natalie Rintoul, Rashmin C. Savani, Wendy Long, Michael T. Mennuti, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 432 KB

english, 2000

12

Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome

Ian D. Krantz, Emma Tonkin, Melanie Smith, Marcella Devoto, Armand Bottani, Claire Simpson, Mary Hofreiter, Vinod Abraham, Lori Jukofsky, Brian P. Conti, Tom Strachan, Laird Jackson

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 258 KB

english, 2001

13

Jagged1 mutations in Alagille syndrome

Nancy B. Spinner, Raymond P. Colliton, Cécile Crosnier, Ian D. Krantz, Michelle Hadchouel, Michèle Meunier-Rotival

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 355 KB

english, 2001

14

Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients

Raymond P. Colliton, Lynn Bason, Feng-Min Lu, David A. Piccoli, Ian D. Krantz, Nancy B. Spinner

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 21 KB

english, 2001

15

Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences

Karen L. Russell, Jeffrey E. Ming, Ketan Patel, Lori Jukofsky, Mark Magnusson, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 334 KB

english, 2001

16

Facial features in Alagille syndrome: Specific or cholestasis facies?

Binita M. Kamath, Kathleen M. Loomes, Rebecca J. Oakey, Karan E.M. Emerick, Tracy Conversano, Nancy B. Spinner, David A. Piccoli, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 364 KB

english, 2002

17

Craniosynostosis in Alagille syndrome

Binita M. Kamath, Catherine Stolle, Lynn Bason, Raymond P. Colliton, David A. Piccoli, Nancy B. Spinner, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 147 KB

english, 2002

18

Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance

Binita M. Kamath, Ian D. Krantz, Nancy B. Spinner, James E. Heubi, David A. Piccoli

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 91 KB

english, 2002

19

Alagille syndrome: Chipping away at the tip of the iceberg

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 44 KB

english, 2002

20

Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome

Binita M. Kamath, Kathleen M. Loomes, Rebecca J. Oakey, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 222 KB

english, 2002

21

Reply to correspondence from Kosztolányi and Méhes “Supernumerary digital flexion creases”

Ian D. Krantz, Binita M. Kamath

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 27 KB

english, 2003

22

Reply to correspondence from Sokol

Binita M. Kamath, Kathleen M. Loomes, David A. Piccoli, Karan E.M. Emerick, Rebecca J. Oakey, Nancy B. Spinner, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 33 KB

english, 2004

23

Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

Cheryl DeScipio, Maninder Kaur, Dinah Yaeger, Jeffrey W. Innis, Nancy B. Spinner, Laird G. Jackson, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 200 KB

english, 2005

24

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

Maninder Kaur, Cheryl DeScipio, Jennifer McCallum, Dinah Yaeger, Marcella Devoto, Laird G. Jackson, Nancy B. Spinner, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 157 KB

english, 2005

25

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: Who should be offered GJB2 testing?

Margaret A. Kenna, Heidi L. Rehm, Caroline D. Robson, Anna Frangulov, Jennifer McCallum, Dinah Yaeger, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 103 KB

english, 2007

26

Parental narratives on genetic testing for children with hearing loss: A qualitative inquiry

Annie G. Steinberg, Girija Kaimal, Lisa Bain, Ian Krantz, Yuelin Li

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 142 KB

english, 2007

27

Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

Antonie D. Kline, Ian D. Krantz, Annemarie Sommer, Mark Kliewer, Laird G. Jackson, David R. FitzPatrick, Alex V. Levin, Angelo Selicorni

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 349 KB

english, 2007

28

Bile duct anomalies in a male child with Noonan syndrome: A case for ras and notch pathway synergism

Kristen J. Rasmussen, Ivan Zador, Carrie Zabel, Ian D. Krantz, Philip F. Giampietro

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 111 KB

english, 2008

29

Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals

Cheryl DeScipio, Nancy B. Spinner, Maninder Kaur, Dinah Yaeger, Laura K. Conlin, Anthony Ambrosini, Sufen Hu, Simei Shan, Ian D. Krantz, Harold Riethman

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 175 KB

english, 2008

30

Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance Am J Med Genet Part A 143A:1287–1296

Antonie D. Kline, Ian D. Krantz, Annemarie Sommer, Mark Kliewer, Laird G. Jackson, David R. FitzPatrick, Alex V. Levin, Angelo Selicorni

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 24 KB

english, 2008

31

Detailed assessment of the ear in Cornelia de Lange syndrome: Comparison with a control sample using the new dysmorphology guidelines

Alasdair G.W. Hunter, Julianne S. Collins, Matthew A. Deardorff, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 257 KB

english, 2009

32

Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20

Cheryl DeScipio, Jennifer D. Morrissette, Laura K. Conlin, Dinah Clark, Maninder Kaur, James Coplan, Harold Riethman, Nancy B. Spinner, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 233 KB

english, 2010

33

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

Melissa Leyva-Vega, Jennifer Gerfen, Brian D. Thiel, Dorota Jurkiewicz, Elizabeth B. Rand, Joanna Pawlowska, Diana Kaminska, Pierre Russo, Xiaowu Gai, Ian D. Krantz, Binita M. Kamath, Hakon Hakonarson

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 421 KB

english, 2010

34

Update on “Two Siblings With Alternate Unbalanced Recombinants Derived From a Large Cryptic Maternal Pericentric Inversion of Chromosome 20”

Cheryl DeScipio, Jennifer D. Morrissette, Laura K. Conlin, Dinah Clark, Maninder Kaur, James Coplan, Harold Riethman, Nancy B. Spinner, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 45 KB

english, 2010

35

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pie, Victoria Siu, Feliciano J. Ramos, Ian D. Krantz, Matthew A. Deardorff

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 452 KB

english, 2010

36

Cohesin biology and the cohesinopathies: Abstracts from the Second Biennial Conference, Pontignano, Italy, 2009

Antonio Musio, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 151 KB

english, 2010

37

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

Samantha A. Schrier, Ilana Sherer, Matthew A. Deardorff, Dinah Clark, Lynn Audette, Lynette Gillis, Antonie D. Kline, Linda Ernst, Kathleen Loomes, Ian D. Krantz, Laird G. Jackson

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 271 KB

english, 2011

38

Renal anomalies in Alagille syndrome: A disease-defining feature

Binita M. Kamath, Gisele Podkameni, Anne L. Hutchinson, Laura D. Leonard, Jennifer Gerfen, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner, Kathleen M. Loomes, Kevin Meyers

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 97 KB

english, 2012

39

Natural history of aging in Cornelia de Lange syndrome

Antonie D. Kline, Marco Grados, Paul Sponseller, Howard P. Levy, Natalie Blagowidow, Christianne Schoedel, Joni Rampolla, Douglas K. Clemens, Ian Krantz, Amy Kimball, Carmen Pichard, David Tuchman

Journal:

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

Année:

2007

Langue:

english

Fichier:

PDF, 339 KB

english, 2007

40

Novel microdeletion syndromes

Ian D. Krantz, Nancy B. Spinner

Journal:

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

Année:

2007

Langue:

english

Fichier:

PDF, 171 KB

english, 2007

41

Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

Karan M. Emerick, Elizabeth B. Rand, Elizabeth Goldmuntz, Ian D. Krantz, Nancy B. Spinner, David A. Piccoli

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 168 KB

english, 1999

42

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

Alessandro Ferraris, Eric Rappaport, Rosa Santacroce, Eleanor Pollak, Ian Krantz, Stephen Toth, Frida Lysholm, Maurizio Margaglione, Gabriella Restagno, Bruno Dallapiccola, Saul Surrey, Paolo Fortina

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 359 KB

english, 2002

43

Mutations in the chromatin-associated protein ATRX

Richard J. Gibbons, Takahito Wada, Christopher A. Fisher, Nicola Malik, Matthew J. Mitson, David P. Steensma, Alan Fryer, David R. Goudie, Ian D. Krantz, Joanne Traeger-Synodinos

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 302 KB

english, 2008

44

Spectrum and consequences of SMC1A mutations: The unexpected involvement of a core component of cohesin in human disease

Linda Mannini, Jinglan Liu, Ian D. Krantz, Antonio Musio

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 135 KB

english, 2010

45

Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis

Robert C. Bauer, Ayanna O. Laney, Rosemarie Smith, Jennifer Gerfen, Jennifer J.D. Morrissette, Stacy Woyciechowski, Jennifer Garbarini, Kathleen M. Loomes, Ian D. Krantz, Zsolt Urban, Bruce D. Gelb, E

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 276 KB

english, 2010

46

Multiplexed DNA sequencing-by-synthesis

Sergei A. Aksyonov, Michael Bittner, Linda B. Bloom, Linda J. Reha-Krantz, Ian R. Gould, Mark A. Hayes, Urban A. Kiernan, Eric E. Niederkofler, Vincent Pizziconi, Raul S. Rivera, Daniel J.B. Williams,

Journal:

Analytical Biochemistry

Année:

2006

Langue:

english

Fichier:

PDF, 575 KB

english, 2006

47

Role of oxidative stress on diesel-enhanced influenza infection in mice

Kymberly M Gowdy, Quentin T Krantz, Charly King, Elizabeth Boykin, Ilona Jaspers, William P Linak, M Ian Gilmour

Journal:

Particle and Fibre Toxicology

Année:

2010

Langue:

english

Fichier:

PDF, 801 KB

english, 2010

48

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3

Emma T. Tonkin, Melanie Smith, Piet Eichhorn, Sandie Jones, Burhan Imamwerdi, Susan Lindsay, Mike Jackson, Tzu-Jou Wang, Maggie Ireland, John Burn, Ian D. Krantz, Philippa Carr, Tom Strachan

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 479 KB

english, 2004

49

Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the humanDeltex(DTX1) gene

Laura Lee, Jennifer Dowhanick-Morrissette, Anna Katz, Lori Jukofsky, Ian D. Krantz

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2000

50

On the Molecular Etiology of Cornelia de Lange Syndrome

Dale Dorsett, Ian D. Krantz

Journal:

Annals of the New York Academy of Sciences

Année:

2009

Langue:

english

Fichier:

PDF, 379 KB

english, 2009