Volume 68; Issue 4

American Journal of Medical Genetics

Volume 68; Issue 4

1

Are blastogenetic anomalies sporadic?

Martínez-Frías, María Luisa, Frías, Jaime L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 91 KB

english, 1997

2

Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia BRESEK/BRESHECK: New X-link

Reish, Orit, Gorlin, Robert J., Hordinsky, Maria, Rest, Ellen B., Burke, Barbara, Berry, Susan A.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 245 KB

english, 1997

3

Tricho-hepato-enteric syndrome: Further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies

Verloes, Alain, Lombet, Jacques, Lambert, Yves, Hubert, Anne-Frédérique, Deprez, Manuel, Fridman, Viviana, Gosseye, Serge, Rigo, Jacques, Sokal, Etienne

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 157 KB

english, 1997

4

Multiple epiphyseal dysplasia, ribbing type: A novel point mutation in the COMP gene in a South African family

Ballo, Robea, Briggs, Michael D., Cohn, Daniel H., Knowlton, Robert G., Beighton, Peter H., Ramesar, Rajkumar S.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 214 KB

english, 1997

5

Autosomal recessive lateralization and midline defects: Blastogenesis recessive 1

Debrus, Sophie, Sauer, Ursula, Gilgenkrantz, Simone, Jost, Wolfgang, Jesberger, Hans-Jürgen, Bouvagnet, Patrice

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 181 KB

english, 1997

6

Blastogenesis dominant 1: A sequence with midline anomalies and heterotaxy

de Meeus, Anne, Sarda, Pierre, Tenconi, Romano, Ferrière, Marc, Bouvagnet, Patrice

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 138 KB

english, 1997

7

Paracentric inversion involving the long arm of chromosome 9 resulting in deletion of abl gene

Kleyman, Svetlana M., Parekh, Aruna J., Rodriguez, Abraham R., Conte, Robert A., Verma, Ram S.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 116 KB

english, 1997

8

Dominance and homozygosity

Zlotogora, Joël

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 102 KB

english, 1997

9

A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization

Gibson, Lisa H., McGrath, James, Yang-Feng, Teresa L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 181 KB

english, 1997

10

Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype

Kosaki, Kenjiro, Curry, Cynthia J., Roeder, Elizabeth, Jones, Kenneth Lyons

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 201 KB

english, 1997

11

Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region

Rizzu, P., Haddad, B. R., Vallcorba, I., Alonso, A., Ferro, M. T., Garcia-Sagredo, J. M., Baldini, A.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 164 KB

english, 1997

12

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15

Cassidy, S. B., Forsythe, M., Heeger, S., Nicholls, R. D., Schork, N., Benn, P., Schwartz, S.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 241 KB

english, 1997

13

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance

Gripp, Karen W., Donnai, Dian, Clericuzio, Carol L., McDonald-McGinn, Donna M., Guttenberg, Marta, Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 215 KB

english, 1997

14

Transmission electron microscopy of chromosomes by longitudinal section preparation: Application to fragile X chromosome analysis

Wen, Guang Y., Jenkins, Edmund C., Yao, Xiu-Lan, Yoon, David, Brown, W. Ted, Wisniewski, Henryk M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 321 KB

english, 1997

15

Mild “duplication 6q syndrome”: A case with partial trisomy (6)(q23.3q25.3)

Henegariu, Octavian, Heerema, Nyla A., Vance, Gail H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 217 KB

english, 1997

16

Microcephaly, muscular build, rhizomelia, and cataracts: Description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology

Verloes, Alain, Lesenfants, Sylviane, Misson, Jean-Paul, Galand, Albert, Koulischer, Lucien

Journal:

American Journal of Medical Genetics

Year:

1997

File:

PDF, 16.10 MB

1997

17

Microcephaly, muscular build, rhizomelia and cataracts: A possible recessive syndrome

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 39 KB

english, 1997

18

The neuroimaging findings in Sotos syndrome

Schaefer, G. Bradley, Bodensteiner, John B., Buehler, Bruce A., Lin, Angela, Cole, Trevor R. P.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 203 KB

english, 1997

19

Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity

Zlotogora, Joël

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 93 KB

english, 1997

20

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion

Lorda-Sánchez, Isabel, Urioste, Miguel, Villa, Amelia, Carrascosa, María del Carmen, Vásquez, Maria Socorro, Martínez, Andrés, Martínez-Frías, María Luisa

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 169 KB

english, 1997

21

Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl

Lorda-Sánchez, Isabel, Villa, Amelia, Urioste, Miguel, Bernal, Esther, Jaso, Enrique, García, Angel, Martínez-Frías, María Luisa

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 151 KB

english, 1997

22

Problem of offering unsolicited clinical genetic advice and diagnoses to nonmedical friends and strangers

Hook, Ernest B.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 41 KB

english, 1997

23

Response to Dr. Hook

Marion, Robert W.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 41 KB

english, 1997

24

Photographic documentation of syndrome diagnosis

Allanson, Judith, Hunter, Alasdair, Cassidy, Suzanne, Curry, Cynthia, Donnai, Dian, Fraser, Clarke, Gorlin, Robert, Graham, John, Hall, Bryan, Hall, Judith, Jones, Kenneth Lyons, Stevenson, Roger, Win

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 43 KB

english, 1997

25

Reply to Dr. Allanson and co-authors regarding clinical illustrations in the American Journal of Medical Genetics

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 45 KB

english, 1997

26

Inherited disorders of the thyroid system

Petty, Elizabeth M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 41 KB

english, 1997

27

Medical genetics

Petty, Elizabeth M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 51 KB

english, 1997

28

Cellular cancer markers

Petty, Elizabeth M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 52 KB

english, 1997

29

Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population

Ye, Lin, Miki, Tetsuro, Nakura, Jun, Oshima, Junko, Kamino, Kouzin, Rakugi, Hiromi, Ikegami, Hiroshi, Higaki, Jitsuo, Edland, Steven D., Martin, George M., Ogihara, Toshio

Journal:

American Journal of Medical Genetics

Year:

1997

File:

PDF, 594 KB

1997

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