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1

Interstitial deletion of (17)(p11.2p11.2) in nine patients

Ann C. M. Smith, Loris McGavran, Jeannie Robinson, Gail Waldstein, Jean Macfarlane, Jon Zonona, Jacob Reiss, Martin Lahr, Leland Allen, Ellen Magenis, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 1.90 MB

english, 1986

2

Angelman syndrome 2005: Updated consensus for diagnostic criteria

Charles A. Williams, Arthur L. Beaudet, Jill Clayton-Smith, Joan H. Knoll, Martin Kyllerman, Laura A. Laan, R. Ellen Magenis, Ann Moncla, Albert A. Schinzel, Jane A. Summers, Joseph Wagstaff

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 90 KB

english, 2006

3

HLA and autism

E. Gene Stubbs, R. Ellen Magenis

Journal:

Journal of Autism and Developmental Disorders

Year:

1980

Language:

english

File:

PDF, 197 KB

english, 1980

4

Åland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia

De-Ann M. Pillers, Richard G. Weleber, Berkley R. Powell, Cheryl E. Hanna, R. Ellen Magenis, Neil R. M. Buist

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 582 KB

english, 1990

5

Down syndrome: Toward a molecular definition of the phenotype

Julie R. Korenberg, Hiroko Kawashima, Stefan M.-Pulst, Leland Allen, Ellen Magenis, Charles J. Epstein

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 703 KB

english, 1990

6

Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics

SuEllen Toth-Fejel, R. Ellen Magenis, Stuart Leff, Michael G. Brown, Bonnie Comegys, Helen Lawce, Toby Berry, David Kesner, Mary Jane Webb, Susan Olson

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1.17 MB

english, 1995

7

Angelman syndrome: Consensus for diagnostic criteria

Dr. Charles A. Williams, Harry Angelman, Jill Clayton-Smith, Daniel J. Driscoll, Jill E. Hendrickson, Joan H. M. Knoll, R. Ellen Magenis, Albert Schinzel, Joseph Wagstaff, Elaine M. Whidden, Roberto T

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 210 KB

english, 1995

8

Y chromosome heterochromatin of differing lengths in two cell populations of the same individual

Yassmine Akkari, Helen Lawce, Stephen Kelson, Cheree Smith, Craig Davis, Luke Boyd, R. Ellen Magenis, Susan Olson

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 94 KB

english, 2005

9

Colored reverse-banding of human chromosomes with acridine orange following alkaline/formalin treatment: Densitometric validation and applications

Herman E. Wyandt, Robert F. Vlietinck, R. Ellen Magenis, Frederick Hecht

Journal:

Year:

1974

Language:

english

File:

PDF, 1.13 MB

english, 1974

10

Variation in pituitary-gonadal function in two adolescent boys with 46XX male syndrome

Stephen LaFranchi, Ellen R. Magenis, Gerald H. Prescott

Journal:

The Journal of Pediatrics

Year:

1980

Language:

english

File:

PDF, 275 KB

english, 1980

11

Neural tube defects and deletions of 22q11

Nickel, Robert E., Magenis, R. Ellen

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 342 KB

english, 1996

12

Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism

Magenis, Ellen, Webb, Mary Jane, Spears, Becky, Opitz, John M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 423 KB

english, 1999

13

Chromosome abnormalities of eighty-one pediatric germ cell tumors: Sex-, age-, site-, and histopathology-related differences—a Children's Cancer Group study

Kimberly J. Bussey, Helen J. Lawce, Susan B. Olson, Diane C. Arthur, Dagmar K. Kalousek, Mark Krailo, Roger Giller, Stephen Heifetz, Rick Womer, R. Ellen Magenis

Journal:

Genes, Chromosomes and Cancer

Year:

1999

Language:

english

File:

PDF, 243 KB

english, 1999

14

Therapy-related preleukemic syndrome

Robert L. Anderson, GROVER, C. Bagby Jr., Kathryn Richert-Boe, R. Ellen Magenis, Robert D. Koler

Journal:

Year:

1981

Language:

english

File:

PDF, 446 KB

english, 1981

15

Chromosome heteromorphism analysis in cases of disputed paternity

Susan B. Olson, R. Ellen Magenis, Shirley I. Rowe, Everett W. Lovrien, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 480 KB

english, 1983

16

Chromosome abnormalities in infants with prune belly anomaly: Association with trisomy 18

Moshe Frydman, R. Ellen Magenis, T. K. Mohandas, Dr. Michael M. Kaback, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 244 KB

english, 1983

17

Response to Dr. Walker

Susan B. Olson, R. Ellen Magenis, Everett W. Lovrien

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 70 KB

english, 1984

18

Bone marrow transplantation for severe combined immune deficiency in an infant with chimerism due to intrauterine-derived maternal lymphocytes: Donor engraftment documented by chromosomal marker studies

Michael S. Borzy, Ellen Magenis, Diane Tomar

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 821 KB

english, 1984

19

Tandem duplication of proximal 22q: A cause of cat-eye syndrome

Jacob A. Reiss, Richard G. Weleber, Michael G. Brown, Charles D. Bangs, Everett W. Lovrien, Dr. R. Ellen Magenis, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 472 KB

english, 1985

20

De novo partial duplication of 17p [dup(17)(p12→p11.2)]: Clinical report

Dr. R. Ellen Magenis, Michael G. Brown, Leland Allen, Jacob Reiss, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 430 KB

english, 1986

21

Y-derived sequences detected in a 45,X male by in situ hybridization

Robert R. Sheehy, Michael G. Brown, Richard J. Warren, Mark Schwartzman, Dr. R. Ellen Magenis, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 1.16 MB

english, 1987

22

Is angelman syndrome an alternate result of del(15)(qllql3)?

R. Ellen Magenis, Michael G. Brown, Deborah A. Lacy, Sarojini Budden, Stephen LaFranchi, John M. Opitz, James F. Reynolds, David H. Ledbetter

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 561 KB

english, 1987

23

Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization

Elizabeth A. Lindsay, Alessandra Grillo, Giovanni B. Ferrero, Elizabeth J. Roth, Ellen Magenis, Markus Grompe, Maj Hultén, Clive Gould, Antonio Baldini, Huda Y. Zoghbi, Andrea Ballabio

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 701 KB

english, 1994

24

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

Robert E. Nickel, De-Ann M. Pillers, Mark Merkens, R. Ellen Magenis, Deborah A. Driscoll, Beverly S. Emanuel, Jonathan Zonana

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 567 KB

english, 1994

25

Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation

Donna M. White, De-Ann M. Pillers, Jacob A. Reiss, Michael G. Brown, R. Ellen Magenis

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1.03 MB

english, 1995

26

Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations

Craig R. Warden, De-Ann M. Pillers, Mary Jo Rice, Julia Wildes, Joseph S. Livingston, Brian A. Clark, Joseph T. Gilhooly, R. Ellen Magenis

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 234 KB

english, 2001

27

Mosaicism of proximal 15q duplication/deletion resulting in Prader–Willi syndrome with normal methylation

Luke Boyd, Michael G. Brown, Stephen Kelson, Helen Lawce, Sarah Shuttleworth, Nancy Unsworth, R. Ellen Magenis

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 156 KB

english, 2005

28

Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm

Luke J. Boyd, Joseph S. Livingston, Michael G. Brown, Helen J. Lawce, Joseph T. Gilhooly, Robert S. Wildin, Leesa M. Linck, R. Ellen Magenis, De-Ann M. Pillers

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 220 KB

english, 2005

29

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith–Magenis syndrome

Weimin Bi, G. Mustafa Saifi, Santhosh Girirajan, Xin Shi, Barbara Szomju, Helen Firth, R. Ellen Magenis, Lorraine Potocki, Sarah H. Elsea, James R. Lupski

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 275 KB

english, 2006

30

Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

Eilis A. Boudreau, Kyle P. Johnson, Angela R. Jackman, Jan Blancato, Marjan Huizing, Claude Bendavid, MaryPat Jones, Settara C. Chandrasekharappa, Alfred J. Lewy, Ann C.M. Smith, R. Ellen Magenis

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 346 KB

english, 2009

31

SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development

Kimberly J. Bussey, Helen J. Lawce, Eleanor Himoe, Xiao Ou Shu, Nyla A. Heerema, Elizabeth J. Perlman, Susan B. Olson, R. Ellen Magenis

Journal:

Genes, Chromosomes and Cancer

Year:

2001

Language:

english

File:

PDF, 238 KB

english, 2001

32

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia

Nyla A. Heerema, Susana C. Raimondi, James R. Anderson, Jaclyn Biegel, Bruce M. Camitta, Linda D. Cooley, Paul S. Gaynon, Betsy Hirsch, R. Ellen Magenis, Loris McGavran, Shivanand Patil, Mark J. Pette

Journal:

Genes, Chromosomes and Cancer

Year:

2007

Language:

english

File:

PDF, 320 KB

english, 2007

33

Comparison of maternal and fetal chromosome heteromorphisms to monitor maternal cell contamination in chorionic villus samples

Susan Olson, John Buckmaster, John Bissonnette, Ellen Magenis

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 393 KB

english, 1987

34

Fetal karyotype following ascertainment of fetal anomalies by ultrasound

Catherine G. Palmer, Judith H. Miles, Patricia N. Howard-Peebles, R. Ellen Magenis, Shivanand Patil, Jan M. Friedman

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 307 KB

english, 1987

35

9p trisomy identified by Giemsa-11

Herman E. Wyandt, Frederick Hecht, R. Ellen Magenis, Douglas G. Wysham, Gerald Prescott

Journal:

Year:

1976

Language:

english

File:

PDF, 522 KB

english, 1976

36

Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe

R. Ellen Magenis, Myriam Casanova, Marc Fellous, Susan Olson, Robert Sheehy

Journal:

Year:

1987

Language:

english

File:

PDF, 1.06 MB

english, 1987

37

Parental origin of a ring 13 chromosome in a female with multiple anomalies

R. Ellen Magenis, Herman E. Wyandt, Kathleen M. Overton, Jean Macfarlane

Journal:

Year:

1976

Language:

english

File:

PDF, 876 KB

english, 1976

38

The single copy gene coding for human α1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13

C. D. Boyd, Karen Weliky, SuEllen Toth-Fejel, Susan B. Deak, Angela M. Christiano, J. W. Mackenzie, Linda J. Sandell, K. Tryggvason, Ellen Magenis

Journal:

Year:

1986

Language:

english

File:

PDF, 517 KB

english, 1986

39

Structural organization of the heterochromatic region of human chromosome 9

Timothy A. Donlon, R. Ellen Magenis

Journal:

Year:

1981

Language:

english

File:

PDF, 888 KB

english, 1981

40

Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 → q22.3 in a patient with tyrosinemia type II

Ernst Natt, Eva-Maria Westphal, Su Ellen Toth-Fejel, R. Ellen Magenis, Neil R. M. Buist, Ruth Rettenmeier, Gerd Scherer

Journal:

Year:

1987

Language:

english

File:

PDF, 1.19 MB

english, 1987

41

Localization of theβ-globin gene to 11p15 by in situ hybridization: Utilization of chromosome 11 rearrangements

R. Ellen Magenis, Timothy A. Donlon, Diane R. Tomar

Journal:

Year:

1985

Language:

english

File:

PDF, 377 KB

english, 1985

42

Distal 19q duplication

Jonathan Zonana, Michael G. Brown, R. Ellen Magenis

Journal:

Year:

1982

Language:

english

File:

PDF, 1.46 MB

english, 1982

43

Intrachromosomal location of the telomeric repeat (TTAGGG)n

Bernhard Weber, L. Allen, R. Ellen Magenis, P. J. Goodfellow, L. Smith, Michael R. Hayden

Journal:

Mammalian Genome

Year:

1991

Language:

english

File:

PDF, 1.04 MB

english, 1991

44

Nonfluorescent Y chromosomes. Cytologic evidence of origin

Ellen Magenis, Timothy Donlon

Journal:

Year:

1982

Language:

english

File:

PDF, 1022 KB

english, 1982

45

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

B. J. Trask, Heather Mefford, Ger van den Engh, Hillary F. Massa, Ramesh C. Juyal, Lorraine Potocki, Brenda Finucane, Dianne N. Abuelo, David R. Witt, Ellen Magenis, Antonio Baldini, Frank Greenberg,

Journal:

Year:

1996

Language:

english

File:

PDF, 111 KB

english, 1996

46

Chromosomal Localization of the Heterochromatic Region 16qh(.76) linked to α-Haptoglobin in Man

HECHT, FREDERICK, TOLBY, BLAINE, MAGENIS, R. ELLEN, KIMBERLING, WILLIAM J., WYANDT, HERMAN, LOVRIEN, EVERETT W.

Journal:

Year:

1971

File:

PDF, 118 KB

1971

47

Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development

Bonnie J. Baty, Susan B. Olson, R. Ellen Magenis, John C. Carey

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 311 KB

english, 2001

48

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian, Fahed Halal, Gordon Gowans, D. Ross McLeod, Sara Zondag, Helga V. Toriello, R. Ellen Magenis, Sarah H. Elsea

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.19 MB

english, 2010

49

Myxoinflammatory fibroblastic sarcoma with complex supernumerary ring chromosomes composed of chromosome 3 segments

Atiya Mansoor, Nisreen Fidda, Eleanor Himoe, Misty Payne, Helen Lawce, R.Ellen Magenis

Journal:

Cancer Genetics and Cytogenetics

Year:

2004

Language:

english

File:

PDF, 535 KB

english, 2004

50

Chondromyxoid fibroma of the nasal cavity with an interstitial insertion between chromosomes 6 and 19

Cristina A. Smith, R. Ellen Magenis, Eleanor Himoe, Cheree Smith, Atiya Mansoor

Journal:

Cancer Genetics and Cytogenetics

Year:

2006

Language:

english

File:

PDF, 418 KB

english, 2006