Volume 86; Issue 1

American Journal of Medical Genetics

Volume 86; Issue 1

1

Partial monosomy of distal 10q: Three new cases and a review

Waggoner, Darrel J., Chow, Clara K., Dowton, S. Bruce, Watson, Michael S.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 211 KB

english, 1999

2

Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome

Savarirayan, Ravi, Thompson, Elizabeth M., Abbott, Kimball J., Moore, Mark H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 264 KB

english, 1999

3

Congenital cholesteatoma and malformations of the facial nerve: Rare manifestations of the BOR syndrome

Graham, Gail E., Allanson, Judith E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 261 KB

english, 1999

4

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)

McQuade, Leon, Christodoulou, John, Budarf, Marcia, Sachdev, Rani, Wilson, Meredith, Emanuel, Beverly, Colley, Alison

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 280 KB

english, 1999

5

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

Wang, Michael S., Schinzel, Albert, Kotzot, Dieter, Balmer, Damina, Casey, Robin, Chodirker, Bernie N., Gyftodimou, Jolanda, Petersen, Michael B., Lopez-Rangel, Elana, Robinson, Wendy P.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

6

Random X-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature

Matsuo, Mari, Muroya, Koji, Kosaki, Kenjiro, Ishii, Takashi, Fukushima, Yoshimitsu, Anzo, Makoto, Ogata, Tsutomu

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 509 KB

english, 1999

7

Partial duplication of 4q12q13 leads to a mild phenotype

Shashi, Vandana, Berry, Margaret N., Santos, C�sar, Pettenati, Mark J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 91 KB

english, 1999

8

Autosomal dominant inheritance of Barber-Say syndrome

Dinulos, Mary Beth, Pagon, Roberta A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 209 KB

english, 1999

9

Relationship of the C242Tp22phox gene polymorphism to angiographic coronary artery disease and endothelial function

Li, Arthur, Prasad, Abhiram, Mincemoyer, Rita, Satorius, Colleen, Epstein, Neal, Finkel, Toren, Quyyumi, Arshed A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 131 KB

english, 1999

10

Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association?

Berkenstadt, Michal, Lev, Dorit, Achiron, Reuven, Rosner, Mordechay, Barkai, Gad

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 142 KB

english, 1999

11

Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex)

Goldstein, Marsha M., Casey, Mairead, Carney, J. Aidan, Basson, Craig T.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 108 KB

english, 1999

12

No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome

Marinescu, R. Catrinel, Johnson, Elizabeth I., Dykens, Elisabeth M., Hodapp, Robert M., Overhauser, Joan

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 112 KB

english, 1999

13

Methylenetetrahydrofolate reductase thermolabile variant and oral clefts

Mills, James L., Kirke, Peadar N., Molloy, Anne M., Burke, Helen, Conley, Mary R., Lee, Young Jack, Mayne, Philip D., Weir, Donald G., Scott, John M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 58 KB

english, 1999

14

Two cases with interstitial deletions of chromosome 2 and sex reversal in one

Slavotinek, Anne, Schwarz, Christine, Getty, Joan F., Stecko, Olga, Goodman, Frances, Kingston, Helen

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 348 KB

english, 1999

15

Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form

Titomanlio, L., Casa, R. Della, Lecora, M., Farina, V., Sebastio, G., Andria, G., Parenti, G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 197 KB

english, 1999

16

Whistling face phenotype without limb abnormalities

Toydemir, Pinar Bayrak, Toydemir, Reha, B�kesoy, I??k

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 110 KB

english, 1999

17

Heteroallelic twins and twin publications

Rivera, Horacio

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 31 KB

english, 1999

18

Reply to the letter to the editor by Rivera??Heteroallelic twins and twin publications?

Cant�, Jose Maria

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 39 KB

english, 1999

19

Altitude as a risk factor for congenital anomalies

Castilla, Eduardo E., Lopez-Camelo, Jorge S., Campa�a, Hebe

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 74 KB

english, 1999

20

Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome

Tekin, Mustafa, Bodurtha, Joann, Ciftci, Ergin, Arsan, Saadet

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 96 KB

english, 1999

21

Counseling by computer: Breast cancer risk and genetic testing

Baty, Bonnie Jeanne

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 34 KB

english, 1999

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