Volume 82; Issue 4

American Journal of Medical Genetics

Volume 82; Issue 4

1

Frank Greenberg, M.D. 1948-1998

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 67 KB

english, 1999

2

NS22: A highly polymorphic complex microsatellite marker within the ATM gene

Udar, Nitin, Farzad, Shahriar, Tai, Lei Qian, Bay, Jacques-Olivier, Gatti, Richard A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 122 KB

english, 1999

3

Severe Lhermitte-Duclos disease with unique germline mutation of PTEN

Sutphen, Rebecca, Diamond, Theresa M., Minton, Susan E., Peacocke, Monica, Tsou, Hui C., Root, Allen W.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 210 KB

english, 1999

4

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay

Mohandas, T.K., Park, Jonathan P., Spellman, Richard A., Filiano, James J., Mamourian, Alexander C., Hawk, Arnold B., Belloni, Dorothy R., Noll, Walter W., Moeschler, John B.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 331 KB

english, 1999

5

Deletion of 1q in a patient with acrofacial dysostosis

Waggoner, Darrel J., Ciske, David J., Dowton, S. Bruce, Watson, Michael S.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 288 KB

english, 1999

6

Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in theCOL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives

Gilchrist, Dawna, Schwarze, Ulrike, Shields, Keith, MacLaren, Linda, Bridge, Peter J., Byers, Peter H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 294 KB

english, 1999

7

Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: Case report and review of triplications and their possible mechanism

Wang, Jun, Reddy, Kavita S., Wang, Endi, Halderman, Lori, Morgan, Brian L.G., Lachman, Ralph S., Lin, Henry J., Cornford, Marcia E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 602 KB

english, 1999

8

De novo mosaic add(3) characterized to be trisomy 14q31-qter using spectral karyotyping and subtelomeric probes

Reddy, K. S., Sulcova, V., Young, H., Blancato, J. K., Haddad, B. R.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 2.46 MB

english, 1999

9

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the pendred gene

Abe, Satoko, Usami, Shin-ichi, Hoover, Denise M., Cohn, Edward, Shinkawa, Hideichi, Kimberling, William J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 245 KB

english, 1999

10

Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: Avoiding pitfalls in the risk calculations

Hodge, Susan E., Lebo, Roger V., Yesley, Anne R., Cheney, Susan M., Angle, Heide, Milunsky, Jeff

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 96 KB

english, 1999

11

Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype

Tsai, Chun-Hui, Van Dyke, Daniel L., Feldman, Gerald L.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 108 KB

english, 1999

12

Two new cases of Cumming syndrome confirming autosomal recessive inheritance

P�rez del R�o, M.J., Fern�ndez-Toral, J., Madrigal, B., Gonz�lez-Gonz�lez, M., Ablanedo, P., Herrero, A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 318 KB

english, 1999

13

Schinzel-Giedion syndrome: Evidence for a neurodegenerative process

Shah, Ashish M., Smith, Michael F., Griffiths, Paul D., Quarrell, Oliver W.J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 257 KB

english, 1999

14

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)

Gustavsson, Peter, Kimber, Eva, Wahlstr�m, Jan, Anner�n, G�ran

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 118 KB

english, 1999

15

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal toDXS85

Gedeon, Agi K., Oley, Christine, Nelson, John, Turner, Gillian, Mulley, J.C.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

16

Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses

Bradley, Linda A., Palomaki, Glenn E., Knight, George J., Haddow, James E., Optiz, John M., Irons, Mira, Kelley, Richard I., Tint, G. Stephen

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 76 KB

english, 1999

17

Fraser syndrome associated with anterior urethral atresia

And?ran, Fatih, Tanyel, F. Cahit, Hi�s�nmez, Akg�n

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 245 KB

english, 1999

18

Folic acid fortification and supplementation

Czeizel, Andrew E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 27 KB

english, 1999