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Volume 46; Issue 6

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American Journal of Medical Genetics Part A
Volume 46; Issue 6

American Journal of Medical Genetics Part A

Volume 46; Issue 6

1

Masthead

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 147 KB

english, 1993

2

Cytogenetic findings of a child with transcobalamin II deficiency

Gail H. Vance, Mark Moncino, Nyla A. Heerema

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 463 KB

english, 1993

3

Newly recognized blepharofacioskeletal Syndrome

A. Richieri-Costa, M. L. Guion-Almeida, E. S. O. Rodini, S. C. S. Pereira, M. M. Cohen Jr.

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 248 KB

english, 1993

4

Clinical and molecular analyses of deletion 3p25-pter syndrome

Philip N. Mowrey, Michael J. Chorney, Charles P. Venditti, Farida Latif, William S. Modi, Michael I. Lerman, Berton Zbar, David B. Robins, Peter K. Rogan, Roger L. Ladda

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 738 KB

english, 1993

5

Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia

Dr. H. Nienhaus, U. Mau, K. D. Zang, W. Henn

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 179 KB

english, 1993

6

Brachydactylous dwarfs of Mseleni

Dr. Denis Viljoen, Victor Fredlund, Raj Ramesar, Peter Beighton

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 464 KB

english, 1993

7

Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anamaly

José Palacios, Carlos Gamallo, Marcial García, Dr. José Ignacio Rodríguez

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 564 KB

english, 1993

8

Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q– syndrome and a ring chromosome 21

Matthew J. McGinniss, Carla Rosenberg, Gail Stetten, Albert A. Schinzel, Franz Binkert, Michael B. Petersen, William G. Kearns, Haig H. Kazazian Jr., Peter L. Pearson, Stylianos E. Antonarakis

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 530 KB

english, 1993

9

Prenatal in situ hybridization test for deleted steroid sulfatase gene

Roger V. Lebo, Eric D. Lynch, Mitchell S. Golbus, Robert R. Flandermeyer, Pauline H. Yen, Larry J. Shapiro

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 812 KB

english, 1993

10

Mandibulofacial dysostosis: Report on two Brazilian families suggesting autosomal recessive inheritance

A. Richieri-Costa, M. A. Bortolozo, J. R. P. Lauris, R. C. M. C. Lauris, M. L. Guion-Almeida, D. Marques, D. Moreti

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 546 KB

english, 1993

11

DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards

S. Raskin, J. A. Phillips III, M. R. S. Krishnamani, C. Vnencak-Jones, R. A. Parker, T. Rozov, J. M. Cardieri, P. Marostica, F. Abreu, R. Giugliani, F. Reis, N. A. Rosario, N. Ludwig, R. F. Pilotto

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 471 KB

english, 1993

12

Uniparental disomy revisited: The first twelve years

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 650 KB

english, 1993

13

Genomic imprinting: Summary of an NICHD conference

Golder N. Wilson, Judith G. Hall, Felix de la Cruz

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 663 KB

english, 1993

14

Robertsonian translocations: Clues to imprinting

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 220 KB

english, 1993

15

Genomic imprinting: Consequences of uniparental disomy for human disease

Dr. Albert Schinzel

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 147 KB

english, 1993

16

Role of DNA methylation in X inactivation and the fragile X syndrome

Dr. Barbara R. Migeon

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 180 KB

english, 1993

17

Imprinting and imprint erasure as viewed through the fragile-X syndrome

Charles D. Laird

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 150 KB

english, 1993

18

Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13

Nathan Fischel-Ghodsian, Xiangdong Bu, Toni R. Prezant, Sitki Oeztas, Zhi-Shen Huang, M. Charlotte Bohlman, Jerome I. Rotter, Mordechai Shohat

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 475 KB

english, 1993

19

Acalvaria: A unique congenital anomaly

Cheryl P. Harris, Jeannette J. Townsend, John C. Carey

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 605 KB

english, 1993

20

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families

Wayne F. Flintoff, Michel Bahuau, Stanislas Lyonnet, Simone Gilgenkrantz, Didier Lacombe, François Marçon, Jacqueline Levilliers, Jean Kachaner, Arnold Munnich, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 497 KB

english, 1993

21

Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies

Madeleine R. MacDonald, G. Bradley Schaefer, Ann Haskins Olney, Marta Tamayo, Jaime L. Frías

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 605 KB

english, 1993

22

Frontonasal dysplasia in two successive generations

Julie S. Fryburg, John A. Persing, Kant Y. Lin

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 313 KB

english, 1993

23

Moving satellites and unstable chromosome translocations: Clinical and cytogenetic implications

Dr. S. A. Farrell, E. J. T. Winsor, V. D. Markovic

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 557 KB

english, 1993

24

Congenital nonprogressive myopathy with Möbius and Robin sequence—the Carey-Fineman-Ziter syndrome: A confirmatory report

Dr. R. Neil Schimke, Debra L. Collins, John M. Hiebert

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 308 KB

english, 1993

25

Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

Maurizio Clementi, Silvano Bellato, Alberto Rossetti, Isabella Mammi, Romano Tenconi

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 337 KB

english, 1993

26

Unusual fingerprint patterns in Smith-Fineman-Myers syndrome

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 126 KB

english, 1993

27

Unusual complex of congenital malformations

Tatjana Zolotukhina, Michail Kuznetsov, Dr. Iosif Lurie, Helena Ilyina

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 207 KB

english, 1993

28

Thrombocytopenia in the Brachmann-de Lange syndrome

Dr. Ursula G. Froster, L. Gortner

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 183 KB

english, 1993

29

On Saraiva and Baraitser and Joubert syndrome: A review

Dr. M. di Rocco

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 89 KB

english, 1993

30

Joubert syndrome with retinal dystrophy and renal cysts: Reply to Dr. Di Rocco

Michael Baraitser

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 53 KB

english, 1993

31

Earliest illustration of an aortic aneurysm by Albrecht von Haller

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 344 KB

english, 1993

32

Axial mesodermal dysplasia spectrum: Variable symptoms in affected sibs

Dr. Jean-Pierre Fryns, Philippe J. Remans, Guy Fabry

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 93 KB

english, 1993

33

Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene

Colleen A. Morris, James Loker, Gregory Ensing, A. Dean Stock

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 701 KB

english, 1993

34

Case of ring chromosome 7: The first report of neuropathological findings

Hiroko Tsukamoto, Norio Sakai, Masako Taniike, Mitsuto Nakatsukasa, Wataru Yoshiwara, Hiromi Sakamoto, Harutoshi Fujimura, Koji Inui, Shintaro Okada

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 424 KB

english, 1993