Abuelo, Dianne N.: search on Z-Library

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1

Microcephaly Syndromes

Journal:

Seminars in Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 1.64 MB

english, 2007

2

Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols

Dr. Dianne N. Abuelo, G. S. Tint, Richard Kelley, Ashok K. Batta, Sarah Shefer, Gerald Salen

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 528 KB

english, 1995

3

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

G.S. Tint, Gerald Salen, Ashok K. Batta, Sarah Shefer, Mira Irons, Ellen Roy Elias, Dianne N. Abuelo, Virginia P. Johnson, Marie Lambert, Richard Lutz, Carolyn Schanen, Colleen A. Morris, George Hogan

Journal:

The Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 641 KB

english, 1995

4

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

Elvera Sofos, Matthew F. Pescosolido, Jose B. Quintos, Dianne Abuelo, Shelly Gunn, Karine Hovanes, Eric M. Morrow, Natasha Shur

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 191 KB

english, 2012

5

Smith-Magenis syndrome (interstitial deletion of chromosome 17p) and congenital heart disease

Abuelo, Dianne N., Corwin, Robert D.

Journal:

Cardiology in the Young

Year:

1993

Language:

english

File:

PDF, 312 KB

english, 1993

6

Ataxia telangiectasia and acinic cell carcinoma of the parotid gland

Charles Mock, George Coleman, John H. Ree, Dianne N. Abuelo, James P. Crowley

Journal:

Journal of Surgical Oncology

Year:

1988

Language:

english

File:

PDF, 730 KB

english, 1988

7

Cardiac malformation in two infants with hypochondrogenesis

Lorraine Potocki, Dianne N. Abuelo, Calvin E. Oyer

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 562 KB

english, 1995

8

Follow-up of infants with amniotic fluid trisomy 20 mosaicism

MD Dianne N. Abuelo, Gail Barsel-Bowers, Ann S. Zartler, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 500 KB

english, 1986

9

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

10

Genetic Disorders in Southeast Asian Immigrants

Abuelo, Dianne N.

Journal:

JAMA The Journal of the American Medical Association

Year:

1978

Language:

english

File:

PDF, 175 KB

english, 1978

11

Attitudes toward genetic testing for cystic fibrosis among college students

Ran Neiger, Dianne N. Abuelo, Mary Ann Passero

Journal:

Journal of Genetic Counseling

Year:

1992

Language:

english

File:

PDF, 466 KB

english, 1992

12

Limb defects and congenital anomalies of the genitalia in an infant with homozygous α-thalassemia

Abuelo, Dianne N., Forman, Edwin N., Rubin, Lewis P.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

13

Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

Marlene T. Anderka, Angela E. Lin, Dianne N. Abuelo, Allen A. Mitchell, Sonja A. Rasmussen

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 205 KB

english, 2009

14

Clinical significance of chimerism

Journal:

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

Year:

2009

Language:

english

File:

PDF, 65 KB

english, 2009

15

Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile-X families

David L. Meryash, Dianne Abuelo

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 502 KB

english, 1988

16

A newborn infant with bilious vomiting and jitteriness

Penelope H. Dennehy, Patricia A. O'Shea, Dianne N. Abuelo

Journal:

The Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 1.70 MB

english, 1985

17

Prognosis for couples who have experienced repeated pregnancy loss**Supported by the Rhode Island Chapter of the March of Dimes, the Rhode Island Foundation, and National Genetics Disease Act no. MCH-401001-04-0.

Abuelo, Dianne N., Barsel-Bowers, Gail

Journal:

Fertility and Sterility

Year:

1983

Language:

english

File:

PDF, 279 KB

english, 1983

18

Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting

Dianne N. Abuelo, Arshad N. Ahsanuddin, Hon Fong L. Mark

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 1.48 MB

english, 2000

19

Midtrimester Diagnosis of Severe Deforming Osteogenesis Imperfecta with Autosomal Dominant Inheritance

Carpenter, Marshall, Abuelo, Dianne, Neave, Charles

Journal:

American Journal of Perinatology

Year:

1986

Language:

english

File:

PDF, 1.26 MB

english, 1986

20

Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities

Moore, Cynthia A., Toriello, Helga V., Abuelo, Dianne N., Bull, Marilyn J., Curry, Cynthia J. R., Hall, Bryan D., Higgins, James V., Stevens, Cathy A., Twersky, Sivya, Weksberg, Rosanna, Dobyns, Willi

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.10 MB

english, 1997

21

Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome

Jacob A. Canick, Dianne N. Abuelo, Linda A. Bradley, G. S. Tint

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 43 KB

english, 1997

22

Hybrids monosomal for human chromosome

Matthew Mailman, Tamara Hemingway, Rebecca Darsey, Carol Glasure, Ying Huang, Robert Chadwick, John Heinz, Audrey Papp, Pamela Snyder, Mary Sedra, Robert Schafer, Dianne Abuelo, Elsa Reich, Karl Theil

Journal:

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

23

Cholesterol supplementation in Smith-Lemli-Opitz syndrome

Abuelo, Dianne N.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 27 KB

english, 1998

24

Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols

G. S. Tint, Dianne Abuelo, Marianne Till, M. P. Cordier, Ashok K. Batta, Sarah Shefer, Akira Honda, Megumi Honda, Guorong Xu, Mira Irons, Ellen R. Elias, Gerald Salen

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 226 KB

english, 1998

25

Risk for trisomy 21 in offspring of individuals who have relatives with trisomy 21

Dianne Abuelo, Gail Barsel-Bowers, Wendy Busch, Siegfried Pueschel, John Pezzullo, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 169 KB

english, 1986

26

Adolescents and genetic testing: what do they think about it?

Asaff Harel, Dianne Abuelo, Alessandra Kazura

Journal:

Journal of Adolescent Health

Year:

2003

Language:

english

File:

PDF, 81 KB

english, 2003

27

Picture of the Month

Abuelo, Dianne N.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1983

Language:

english

File:

PDF, 4.67 MB

english, 1983

28

Pigmentary mosaicism and mosaic Turner syndrome

Laura Capaldi, Jennifer Gray, Dianne Abuelo, Antonio Torrelo, Jose Nieto, Candace Lapidus, Leslie Robinson-Bostom

Journal:

Journal of the American Academy of Dermatology

Year:

2005

Language:

english

File:

PDF, 103 KB

english, 2005

29

Attitudes Toward Cystic Fibrosis Carrier and Prenatal Testing and Utilization of Carrier Testing Among Relatives of Individuals with Cystic Fibrosis

DeeDee Lafayette, Dianne Abuelo, Mary Ann Passero, Umadevi Tantravahi

Journal:

Journal of Genetic Counseling

Year:

1999

Language:

english

File:

PDF, 1.12 MB

english, 1999

30

Anxiety in women with low maternal serum alpha-fetoprotein screening results

Dianne N. Abuelo, Marita R. Hopmann, Gail Barsel-Bowers, Amy Goldstein

Journal:

Prenatal Diagnosis

Year:

1991

Language:

english

File:

PDF, 338 KB

english, 1991

31

Genetic counseling for low maternal serum α-fetoprotein

Abuelo, Dianne, Bowers, Gail Barsel, Haddad, Victor

Journal:

American Journal of Obstetrics and Gynecology

Year:

1985

Language:

english

File:

PDF, 108 KB

english, 1985

32

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

Okajima, Kazuki, Robinson, Luther K., Hart, Meeghan A., Abuelo, Dianne N., Cowan, Linda S., Hasegawa, Tomoko, Maumenee, Irene H., Jabs, Ethylin Wang

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 417 KB

english, 1999

33

Neurofibromatosis with fully expressed Noonan syndrome

Dr. Dianne N. Abuelo, David L. Meryash, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 294 KB

english, 1988

34

Insertional translocations: Report of two new families and review of the literature

Dr. Dianne N. Abuelo, Gail Barsel-Bowers, Anne Richardson, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 668 KB

english, 1988

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