David Aughton: search on Z-Library

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1

Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies

David J. Aughton, Abdul A. AlSaadi, Judith A. Johnson, David J. Transue, Gary L. Trock

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 568 KB

english, 1993

2

Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor

Micale, Mark A., Embrey, Bedford, Macknis, Jacqueline K., Harper, Cheryl E., Aughton, David J.

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 2.39 MB

english, 2016

3

Evaluation of mental retardation: Recommendations of a consensus conference

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 64 KB

english, 1997

4

Familial Medial Telangiectatic Nevus

Pasyk, Krystyna A., Wlodarczyk, Stanislaw R., Jakobczak, M. Malgorzata, Kurek, Marian, Aughton, David J.

Journal:

Plastic & Reconstructive Surgery

Year:

1993

File:

PDF, 758 KB

1993

5

Abstracts

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 204 KB

english, 1997

6

Plenary Session II: Genetic Diversity and Epidemiology

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

7

Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia

Ivana M Vettraino, Wesley Lee, Richard A Bronsteen, Cheryl E Harper, David Aughton, Christine H Comstock

Journal:

Obstetrics & Gynecology

Year:

2003

Language:

english

File:

PDF, 80 KB

english, 2003

8

Plenary Session III: Ethical Issues in Psychiatry and Related Posters

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 112 KB

english, 1997

9

Letters to the editor

Athanasios Kranidis, Gerasimos Filippatos, Spyros Koulouris, Dimitra Kardaras, Lambros Anthopoulos, David J. Aughton, Patricia A. Siffring

Journal:

Journal of Clinical Ultrasound

Year:

1994

Language:

english

File:

PDF, 332 KB

english, 1994

10

Plenary Session IV: Industrial/Academic Collaboration to Find Genes and Update on Genes for Alzheimer's Disorder

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 318 KB

english, 1997

11

Cerebro-osseous-digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu-Laxova syndrome

Alison M. Elliott, Marie Gonzales, Jean-Claude Hoeffel, Martine Le Merrer, Pierre Maroteaux, Ferechte Encha-Razavi, Nicole Joye, Colette Berchel, Christian Fliegel, David J. Aughton, Kelly Beaudry-Rod

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 530 KB

english, 2002

12

Physical Features of Prader-Willi Syndrome in Neonates

Aughton, David J.

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1990

Language:

english

File:

PDF, 553 KB

english, 1990

13

Plenary Session IV (Continued)

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 334 KB

english, 1997

14

Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature

Ysunza, Antonio, Shaheen, Kenneth, Aughton, David J., Micale, Mark A., Merson, Richard, Rutkowski, Kris

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2013

Language:

english

File:

PDF, 1.19 MB

english, 2013

15

Ankyloblepharon filiforme adnatum and imperforate anus

David J. Aughton, Karen G. Hufnagle

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 73 KB

english, 1993

16

Familial posterior helical ear pits

Laura L. Aughton, David J. Aughton

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 107 KB

english, 1992

17

Balanced reciprocal translocation mosaicism associated with an abnormal phenotype

Dr. David J. Aughton, Abdul A. AlSaadi, Alexa I. Canady, Barbara M. Lucas

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 644 KB

english, 1993

18

Further delineation of Kabuki syndrome in 48 well-defined new individuals

Linlea Armstrong, Azza Abd El Moneim, Kirk Aleck, David J. Aughton, Clarisse Baumann, Stephen R. Braddock, Gabriele Gillessen-Kaesbach, John M. Graham Jr, Theresa A. Grebe, Karen W. Gripp, Bryan D. Ha

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 291 KB

english, 2005

19

Dizygotic twins concordant for truncus arteriosus

Michael J. Lang, David J. Aughton, Thomas W. Riggs, Magdy P. Milad, Leslie G. Biesecker

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 392 KB

english, 1991

20

Chromosome 7p – syndrome: Craniosynostosis with preservation of region 7p2

David J. Aughton, Suzanne B. Cassidy, David A. H. Whiteman, Judith A. Delach, Alan E. Guttmacher

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 453 KB

english, 1991

21

Marked female predilection in some syndromes associated with facial hemangiomas

Robert J. Gorlin, Piranit Kantaputra, David J. Aughton, John B. Mulliken

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 609 KB

english, 1994

22

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

Robert Kleta, David J. Aughton, Michael J. Rivkin, Marjan Huizing, Erin Strovel, Yair Anikster, Eduard Orvisky, Marvin Natowicz, Donna Krasnewich, William A. Gahl

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 220 KB

english, 2003

23

Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents

David J. Aughton

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 371 KB

english, 1990

24

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

David J. Aughton, Richard I. Kelley, Aida Metzenberg, Vincent Pureza, Richard M. Pauli

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 166 KB

english, 2003

25

Transient elevation of sweat chloride concentration in a malnourished girl with the Mauriac syndrome

Fernando P. Polack, David J. Transue, William M. Belknap, Bishara J. Freij, David J. Aughton

Journal:

The Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 277 KB

english, 1995

26

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Jennifer J. Johnston, Isabelle Olivos-Glander, Christina Killoran, Emma Elson, Joyce T. Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. Aylsworth, Michael J. Bamshad, Carol

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.17 MB

english, 2005

27

Prenatal diagnosis of Smith–Lemli–Opitz syndrome, type II

Judith A. Johnson, David J. Aughton, Christine H. Comstock, Paul T. von Oeyen, James V. Higgins, Rex Schulz

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 385 KB

english, 1994

28

Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities

Astbury, Caroline, Christ, Laurie A, Aughton, David J, Cassidy, Suzanne B, Kumar, Arun, Eichler, Evan E, Schwartz, Stuart

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 1.15 MB

english, 2004

29

Hydrolethalus syndrome: Report of an apparent mild case, literature review, and differential diagnosis

David J. Aughton, Dr. Suzanne B. Cassidy, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 1.17 MB

english, 1987

30

Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review

David J. Aughton, Howard M. Saal, Judith A. Delach, Zia ur Rahman, David Fisher

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 660 KB

english, 1988

31

Clinical Outcome of Fetuses With Sonographic Diagnosis of Isolated Micrognathia

Vettraino, Ivana M., Lee, Wesley, Bronsteen, Richard A., Harper, Cheryl E., Aughton, David, Comstock, Christine H.

Journal:

Obstetrics & Gynecology

Year:

2003

Language:

english

File:

PDF, 73 KB

english, 2003

32

Pseudohypoparathyroidism Type 1A and Morbid Obesity in Infancy

Dekelbab, Bassem, Aughton, David, Levine, Michael

Journal:

Endocrine Practice

Year:

2009

Language:

english

File:

PDF, 451 KB

english, 2009

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