Adele S. Schneider: search on Z-Library

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1

700: Jewish genetic diseases: larger screening panel increases the aggregate carrier rate in the Ashkenazi Jewish population

Adele Schneider, Deborah Barbouth, Faye Shapiro, Debra Wasserman, Karen Grinzaid, Shoshana Rosen, Paul Fernhoff, Arnold Cohen, Jodi Hoffman

Journal:

American Journal of Obstetrics and Gynecology

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

2

Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16

Schneider, Adele S., Bischoff, Farideh Z., McCaskill, Christopher, Coady, Mary Luz, Stopfer, Jill E., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 561 KB

english, 1996

3

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: An X-linked disorder?

Pellegrino, Joan E., McDonald-McGinn, Donna M., Schneider, Adele, Markowitz, Richard I., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.44 MB

english, 1997

4

Duplication 9q34→qter identified by chromosome painting

Nancy B. Spinner, Joe N. Lucas, Marilyn Poggensee, Mary Jacquette, Adele Schneider

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 913 KB

english, 1993

5

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirmsSOX2,OTX2andFOXE3mutations

Nelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, Jiang Li, Tanya Bardakjian, Leath Tonkin, Adele Schneider, Elliott H Sherr, Anne M Slavotinek

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 463 KB

english, 2011

6

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease

Chou, Christopher M., Nelson, Christine, Tarlé, Susan A., Pribila, Jonathan T., Bardakjian, Tanya, Woods, Sean, Schneider, Adele, Glaser, Tom

Journal:

Year:

2015

Language:

english

File:

PDF, 3.33 MB

english, 2015

7

Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation

Amlie‐Wolf, Louise, Moyer‐Harasink, Sue, Carr, Ann‐Marie, Giampietro, Philip, Schneider, Adele, Simon, Mitchell

Journal:

American Journal of Medical Genetics Part A

Year:

2020

Language:

english

File:

PDF, 1.78 MB

english, 2020

8

New case of Cole-Carpenter syndrome

Amor, David J., Savarirayan, Ravi, Schneider, Adele S., Bankier, Agnes

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 272 KB

english, 2000

9

Interstitial deletion of 4(q21q25) in a liveborn male

Nancy C. Rose, Adele Schneider, Donna M. McDonald-McGinn, Christine Caserta, Beverly S. Emanuel, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 248 KB

english, 1991

10

Association of anophthalmia and esophageal atresia: Four new cases identified by the anophthalmia/microphthalmia clinical registry

Tanya M. Bardakjian, Adele Schneider

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 48 KB

english, 2005

11

SOX2 anophthalmia syndrome

Nicola K. Ragge, Birgit Lorenz, Adele Schneider, Kate Bushby, Luisa de Sanctis, Ugo de Sanctis, Alison Salt, J. Richard O. Collin, Anthony J. Vivian, Samantha L. Free, Pamela Thompson, Kathleen A. Wil

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 248 KB

english, 2005

12

Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters

Adele Schneider, Tanya M. Bardakjian, Jie Zhou, Nkecha Hughes, Rosanne Keep, Darnelle Dorsainville, Femida Kherani, James Katowitz, Lisa A. Schimmenti, Marybeth Hummel, David R. FitzPatrick, Terri L.

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 169 KB

english, 2008

13

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase a enzyme assay is essential for accurate testing

Adele Schneider, Sachiko Nakagawa, Rosanne Keep, Darnelle Dorsainville, Joel Charrow, Kirk Aleck, Jodi Hoffman, Sherman Minkoff, David Finegold, Wei Sun, Andrew Spencer, Johannah Lebow, Jie Zhan, Step

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 82 KB

english, 2009

14

Novel SOX2 mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

Adele Schneider, Tanya Bardakjian, Linda M. Reis, Rebecca C. Tyler, Elena V. Semina

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 282 KB

english, 2009

15

An 18-year follow-up report on an infant with a duplication of 9q34

Erin L. Youngs, Timothy McCord, Jessica A. Hellings, Nancy B. Spinner, Adele Schneider, Merlin G. Butler

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 203 KB

english, 2010

16

FOXE3 plays a significant role in autosomal recessive microphthalmia

Linda M. Reis, Rebecca C. Tyler, Adele Schneider, Tanya Bardakjian, Joan M. Stoler, Serge B. Melancon, Elena V. Semina

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 170 KB

english, 2010

17

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2

Tanya M. Bardakjian, Simon Kwok, Anne M. Slavotinek, Adele S. Schneider

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 87 KB

english, 2010

18

Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy

Karen W. Gripp, Ranita Kuryan, Rhonda E. Schnur, Murtuza Kothawala, Lauren R. Davey, Michael J. Antunes, Kirk W. Reichard, Adele Schneider, Bryan D. Hall

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 788 KB

english, 2011

19

Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

Adele Schneider, Tanya Bardakjian, Linda M. Reis, Rebecca C. Tyler, Elena V. Semina

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

20

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

Anne M. Slavotinek, Ryan Chao, Tomas Vacik, Mani Yahyavi, Hana Abouzeid, Tanya Bardakjian, Adele Schneider, Gary Shaw, Elliott H. Sherr, Greg Lemke, Mohammed Youssef, Daniel F. Schorderet

Journal:

Year:

2012

Language:

english

File:

PDF, 182 KB

english, 2012

21

Genetic defects ofGDF6in the zebrafishout of sightmutant and in human eye developmental anomalies

Anneke I den Hollander, Janisha Biyanwila, Peter Kovach, Tanya Bardakjian, Elias I Traboulsi, Nicola K Ragge, Adele Schneider, Jarema Malicki

Journal:

Year:

2010

Language:

english

File:

PDF, 7.32 MB

english, 2010

22

Association of ade novo16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Tanya M Bardakjian, Adele S Schneider, David Ng, Jennifer J Johnston, Leslie G Biesecker

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 515 KB

english, 2009

23

Monozygotic twins discordant for VACTERL association

Andres F. Camacho, Adele Schneider, Darnelle Dorsainville, David L. Schutzman

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 98 KB

english, 2008

24

Detection of choroidal aneurysms with indocyanine green videoangiography

U. Schneider, Saleh Sherif-Adel, Faik Gelisken, Werner Inhoffen, Ingrid Kreissig

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Year:

1998

Language:

english

File:

PDF, 146 KB

english, 1998

25

BMP4loss-of-function mutations in developmental eye disorders including SHORT syndrome

Linda M. Reis, Rebecca C. Tyler, Kala F. Schilter, Omar Abdul-Rahman, Jeffrey W. Innis, Beth A. Kozel, Adele S. Schneider, Tanya M. Bardakjian, Edward J. Lose, Donna M. Martin, Ulrich Broeckel, Elena

Journal:

Year:

2011

Language:

english

File:

PDF, 1.96 MB

english, 2011

26

Ratings of Early Major Depressive Disorder Symptom Change During a Brief Psychiatric Hospitalization

Jeremy W. Pettit, Patricia M. Averill, Adel A. Wassef, Nelson P. Gruber, Laurie Schneider

Journal:

Psychiatric Quarterly

Year:

2005

Language:

english

File:

PDF, 91 KB

english, 2005

27

Molecular cytogenetic identification of a wheat-Aegilops geniculata Roth spontaneous chromosome substitution and its effects on the growth and physiological responses of seedlings to osmotic stress

Svetlana Landjeva, Konstantina Kocheva, Tania Karceva, Adél Sepsi, István Molnár, Annamária Schneider, Ganka Ganeva, Georgi Georgiev, Márta Molnár-Láng

Journal:

Year:

2012

Language:

english

File:

PDF, 747 KB

english, 2012

28

Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy

Sanjay M. Sisodiya, Nicola K. Ragge, Gianpiero L. Cavalleri, Ann Hever, Birgit Lorenz, Adele Schneider, Kathleen A. Williamson, John M. Stevens, Samantha L. Free, Pamela J. Thompson, Veronica Van Heyn

Journal:

Year:

2006

Language:

english

File:

PDF, 393 KB

english, 2006

29

Indocyanine green angiography and transmission defects

Ulrike Schneider, Saleh Sherif-Adel, Faik Gelisken, Ingrid Kreissig

Journal:

Acta Ophthalmologica (Blackwell)

Year:

1997

Language:

english

File:

PDF, 1.18 MB

english, 1997

30

10.1038/35071118

del Portillo, Hernando A., Fernandez-Becerra, Carmen, Bowman, Sharen, Oliver, Karen, Preuss, Martin, Sanchez, Cecilia P., Schneider, Nick K., Villalobos, Juan M., Rajandream, Marie-Adele, Harris, Davi

Journal:

Year:

2001

Language:

english

File:

PDF, 210 KB

english, 2001

31

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

Ng, David, Thakker, Nalin, Corcoran, Connie M, Donnai, Dian, Perveen, Rahat, Schneider, Adele, Hadley, Donald W, Tifft, Cynthia, Zhang, Liqun, Wilkie, Andrew O M

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 1.07 MB

english, 2004

32

Clinicopathologic exercise: Hypoglycemia ina young woman with amenorrhea

Linda W. Greenberg, Francisco Badosa, Ali Niakosari, Adele Schneider, Nayere Zaeri, Alan M. Schindler

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 1.18 MB

english, 2000

33

Cysteamine inhibition of [15N]-glycine turnover in cystinosis and of the glycine cleavage system in vitro

Marc Yudkoff, Itzhak Nissim, Adele Schneider, Stanton Segal

Journal:

Year:

1981

Language:

english

File:

PDF, 896 KB

english, 1981

34

ACMG position statement on prenatal/preconception expanded carrier screening

Grody, Wayne W., Thompson, Barry H., Gregg, Anthony R., Bean, Lora H., Monaghan, Kristin G., Schneider, Adele, Lebo, Roger V.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 412 KB

english, 2013

35

Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience

Warsch, Jessica R. L., Warsch, Sean, Herman, Elizabeth, Zakarin, Lauren, Schneider, Adele, Hoffman, Jodi, Wasserman, Deborah, Barbouth, Deborah

Journal:

Journal of Community Genetics

Year:

2014

Language:

english

File:

PDF, 380 KB

english, 2014

36

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

Choi, Alex, Lao, Richard, Ling-Fung Tang, Paul, Wan, Eunice, Mayer, Wasima, Bardakjian, Tanya, Shaw, Gary M, Kwok, Pui-yan, Schneider, Adele, Slavotinek, Anne

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 637 KB

english, 2015

37

Two-channel pseudogap Kondo and Anderson models: Quantum phase transitions and non-Fermi liquids

Schneider, Imke, Fritz, Lars, Anders, Frithjof B., Benlagra, Adel, Vojta, Matthias

Journal:

Physical Review B

Year:

2011

Language:

english

File:

PDF, 501 KB

english, 2011

38

ACMG Position Statement on Prenatal/Preconception Expanded Carrier Screening

Grody, Wayne W., Thompson, Barry H., Gregg, Anthony R., Bean, Lora H., Monaghan, Kristin G., Schneider, Adele, Lebo, Roger V.

Journal:

Obstetric and Gynecologic Survey

Year:

2013

Language:

english

File:

PDF, 131 KB

english, 2013

39

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

Edwards, Janice G., Feldman, Gerald, Goldberg, James, Gregg, Anthony R., Norton, Mary E., Rose, Nancy C., Schneider, Adele, Stoll, Katie, Wapner, Ronald, Watson, Michael S.

Journal:

Obstetrics & Gynecology

Year:

2015

Language:

english

File:

PDF, 124 KB

english, 2015

40

Anatomical Asplenia in Cat Eye Syndrome: An Expansion of the Disease Spectrum

Chellapandian, DeepakBabu, Schneider, Adele

Journal:

Case Reports in Pediatrics

Year:

2013

Language:

english

File:

PDF, 580 KB

english, 2013

41

The Library's Role in Remediation

Schneider, Adele, Fuhr, Morton L.

Journal:

Community & Junior College Libraries

Year:

1983

Language:

english

File:

PDF, 358 KB

english, 1983

42

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

Raca, Gordana, Jackson, Craig A, Kucinskas, Laimutis, Warman, Berta, Shieh, Joseph T C, Schneider, Adele, Bardakjian, Tanya M, Schimmenti, Lisa A

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 690 KB

english, 2011

43

Uranium Removal from Seawater by Means of Polyamide 6 Fibers Directly Grafted with Diallyl Oxalate through a Single-Step, Solvent-Free Irradiation Process

Dietz, Travis C., Tomaszewski, Claire E., Tsinas, Zois, Poster, Dianne, Barkatt, Aaron, Adel-Hadadi, Mohammad, Bateman, Fred B., Cumberland, Lonnie T., Schneider, Erich, Gaskell, Karen, LaVerne, Jay,

Journal:

Industrial & Engineering Chemistry Research

Year:

2015

Language:

english

File:

PDF, 3.22 MB

english, 2015

44

High cesarean section rate in trisomy 18 briths: A potential indication for late prenatal diagnosis

Schneider, Adele S., Mennuti, Michael T., Zackai, Elaine H.

Journal:

American Journal of Obstetrics and Gynecology

Year:

1981

Language:

english

File:

PDF, 352 KB

english, 1981

45

The genetics of anophthalmia and microphthalmia

Bardakjian, Tanya M., Schneider, Adele

Journal:

Current Opinion in Ophthalmology

Year:

2011

Language:

english

File:

PDF, 144 KB

english, 2011

46

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

Gorman, Kathleen M., Lynch, Sally A., Schneider, Adele, Grange, Dorothy K., Williamson, Kathleen A., FitzPatrick, David R., King, Mary D.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 147 KB

english, 2016

47

Discriminant Analysis for Assigning Short-Term Counts to Seasonal Adjustment Factor Groupings

Tsapakis, Ioannis, Schneider, William, Bolbol, Adel, Skarlatidou, Artemis

Journal:

Transportation Research Record Journal of the Transportation Research Board

Year:

2011

Language:

english

File:

PDF, 326 KB

english, 2011

48

Human Effector Memory T Helper Cells Engage with Mouse Macrophages and Cause Graft- versus -Host–Like Pathology in Skin of Humanized Mice Used in a Nonclinical Immunization Study

Sundarasetty, Bala S., Volk, Valery, Theobald, Sebastian J., Rittinghausen, Susanne, Schaudien, Dirk, Neuhaus, Vanessa, Figueiredo, Constanca, Schneider, Andreas, Gerasch, Laura, Mucci, Adele, Moritz,

Journal:

The American Journal of Pathology

Year:

2017

Language:

english

File:

PDF, 5.74 MB

english, 2017

49

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 ( GDF3 ) in a female with unilateral anophthalmia and skeletal anomalies

Bardakjian, Tanya, Krall, Max, Wu, Di, Lao, Richard, Tang, Paul Ling-Fung, Wan, Eunice, Kopinsky, Sarina, Schneider, Adele, Kwok, Pui-yan, Slavotinek, Anne

Journal:

American Journal of Ophthalmology Case Reports

Year:

2017

Language:

english

File:

PDF, 458 KB

english, 2017

50

Ocular manifestations of PACS1 mutation

Pefkianaki, Maria, Schneider, Adele, Capasso, Jenina E., Wasserman, Barry, Bardakjian, Tanya, Levin, Alex V.

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2018

Language:

english

File:

PDF, 212 KB

english, 2018

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