Volume 78; Issue 4

American Journal of Medical Genetics

Volume 78; Issue 4

1

Ile225Thr loop mutation in thelipoprotein lipase (LPL) gene is a de novo event

Henderson, Howard E., Bijvoet, Saskia M., Mannens, Marcel A.M.M., Bruin, Taco, Erkelens, D. Willem, Hayden, Michael R., Kastelein, Johannes J.P.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 154 KB

english, 1998

2

Report of a new patient with transposition of the great arteries with deletion of 22q11.2

Marble, Michael, Morava, Eva, Lopez, Robert, Pierce, Maria, Pierce, Robert

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 110 KB

english, 1998

3

Phenotypic discordance in monozygotic twins with 22q11.2 deletion

Yamagishi, Hiroyuki, Ishii, Chihiro, Maeda, Jun, Kojima, Yoshifumi, Matsuoka, Rumiko, Kimura, Misa, Takao, Atsuyoshi, Momma, Kazuo, Matsuo, Nobutake

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 59 KB

english, 1998

4

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

Rauch, Anita, Hofbeck, Michael, Leipold, Georg, Klinge, Jens, Trautmann, Udo, Kirsch, Michaela, Singer, Helmut, Pfeiffer, Rudolf A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 570 KB

english, 1998

5

Prevalence of the mutation C677 ? T in the methylene tetrahydrofolate reductase gene among distinct ethnic groups in Brazil

Arruda, Valder R., Siqueira, Lucia H., Gon�alves, Marilda S., von Zuben, Paula M., Soares, Manoel C.P., Menezes, Raimundo, Annichino-Bizzacchi, Joyce M., Costa, Fernando F.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 92 KB

english, 1998

6

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: A new case

Orrico, Alfredo, Galli, Lucia, Dotti, Maria Teresa, Plewnia, Katrin, Censini, Stefano, Federico, Antonio

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 175 KB

english, 1998

7

A family with dominant oculoauriculovertebral spectrum

Stoll, C., Viville, B., Treisser, A., Gasser, B.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 218 KB

english, 1998

8

Clustering ofFBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development

Park, Eun-Sook, Putnam, Elizabeth A., Chitayat, David, Child, Anne, Milewicz, Dianna M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 285 KB

english, 1998

9

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III

Gripp, Karen W., Stolle, Catherine A., McDonald-McGinn, Donna M., Markowitz, Richard I., Bartlett, Scott P., Katowitz, James A., Muenke, Maximilian, Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 228 KB

english, 1998

10

Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases

Zatz, Mayana, Sumita, Denilce, Campiotto, Simone, Canovas, Marta, Cerqueira, Antonia, Vainzof, Mariz, Passos-Bueno, Maria Rita

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 107 KB

english, 1998

11

Unilateral terminal aphalangia in father and daughter?exogenous or genetic cause?

Neumann, Luitgard, Pelz, J�rg, Kunze, J�rgen

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 154 KB

english, 1998

12

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Clinical and neuropathological observations in a 33-year-old man

Keyvani, K., Paulus, W., Traupe, H., Kiesewetter, F., Cursiefen, C., Huk, W., Raab, K., Orth, U., Rauch, A., Pfeiffer, R.A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 408 KB

english, 1998

13

Cholesterol supplementation in Smith-Lemli-Opitz syndrome

Abuelo, Dianne N.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 27 KB

english, 1998

14

Response to ?Cholesterol supplementation in Smith-Lemli-Opitz syndrome?

Elias, Ellen Roy

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 27 KB

english, 1998

15

American College of Medical Genetics statement on folic acid: Fortification and supplementation

Crandall, Barbara F., Corson, Virginia L., Evans, Mark I., Goldberg, James D., Knight, George, Salafsky, Ira S.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 22 KB

english, 1998

16

Raine syndrome

Rejjal, Abdellatif

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 316 KB

english, 1998

17

Analysis ofBRCA1 mutations in a Pakistani family with hereditary breast and ovarian cancer syndrome

Moslehi, Roxana, Solehdin, Fatima, Malik, Imtiaz, Narod, Steven

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 40 KB

english, 1998

18

Heteropagus conjoined twins due to fusion of two embryos

Machin, Geoffrey A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 29 KB

english, 1998

19

Reply to Geoffrey A Machin

Logrono, Roberto, Harris, Charles, Kent, Marijo, Meisner, Lorraine

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 25 KB

english, 1998

20

Cervical ribs in mid-trimester fetuses

Seller, Mary J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 21 KB

english, 1998

21

Cervical ribs in human fetuses

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 22 KB

english, 1998

22

Knowing the ethnic origin of the patient is important in making a diagnosis

Zlotogora, Jo�l

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 29 KB

english, 1998

23

Lexikon der Syndrome und Fehlbildungen

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 29 KB

english, 1998

24

Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28

Ritchie, R.J., Chakrabarti, L., Knight, S.J.L., Harding, R.M., Davies, K.E.

Journal:

American Journal of Medical Genetics

Year:

1998

File:

PDF, 95 KB

1998

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