Volume 86; Issue 5

American Journal of Medical Genetics

Volume 86; Issue 5

1

Robert Layman Summitt, M.D. 1932-1998

Wilroy, R. Sid, Opitz, John M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 82 KB

english, 1999

2

Aortic root dilation in apparent Lujan-Fryns syndrome

Wittine, Lara M., Josephson, Kevin D., Williams, Marc S.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 254 KB

english, 1999

3

Mild autosomal dominant hypophosphatasia: In utero presentation in two families

Moore, Cynthia A., Curry, Cynthia J.R., Henthorn, Paula S., Smith, John A., Smith, J. Charles, O'Lague, Patricia, Coburn, Stephen P., Weaver, David D., Whyte, Michael P.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 504 KB

english, 1999

4

Interstitial deletion of bands 11q21?22.3 in a three-year-old girl defined using fluorescence in situ hybridization on metaphase chromosomes

Horelli-Kuitunen, Nina, Gahmberg, Nina, Eeva, Mervi, Palotie, Aarno, J�rvel�, Irma

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.16 MB

english, 1999

5

Different molecular basis for spinal muscular atrophy in South African black patients

Stevens, G., Yawitch, T., Rodda, J., Verhaart, S., Krause, A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 83 KB

english, 1999

6

Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome

Fujimoto, Shinji, Yokochi, Kenji, Morikawa, Haruko, Nakano, Masao, Shibata, Hideo, Togari, Hajime, Wada, Yoshiro

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 222 KB

english, 1999

7

Limb deformations in oligohydramnios sequence: Effects of gestational age and duration of oligohydramnios

Christianson, Caitlin, Huff, Dale, McPherson, Elizabeth

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 60 KB

english, 1999

8

Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken

Pauli, Richard M., Modaff, Peggy, Sipes, Susan L., Whyte, Michael P.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 394 KB

english, 1999

9

Perlman syndrome: Four additional cases and review

Henneveld, Hetty Th., van Lingen, Richard A., Hamel, Ben C.J., Stolte-Dijkstra, Irene, van Essen, Antonie J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 379 KB

english, 1999

10

Genetic counseling for childless women at risk for Duchenne muscular dystrophy

Eggers, Sabine, Pavanello, Rita C.M., Passos-Bueno, Maria Rita, Zatz, Mayana

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 70 KB

english, 1999

11

Koraxitrachitic syndrome: A syndromic form of self-healing collodion baby with residual dappled atrophy of the derma

Verloes, Alain, Hermanns-L�, Trinh, Lesenfants, Sylviane, Lombet, Jacques, Lamotte, Paul-Jacques, Cr�vecoeur-Li�geois, Corine, Duchesne, Bernard, Pi�rard, G�rald E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 581 KB

english, 1999

12

Cerebello-oculo-renal syndromes including Arima, Senior-L�ken and COACH syndromes: More than just variants of Joubert syndrome

Satran, Daniel, Pierpont, Mary Ella M., Dobyns, William B.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 192 KB

english, 1999

13

Sodium channel abnormalities are infrequent in patients with long QT Syndrome: Identification of two novelSCN5A mutations

Wattanasirichaigoon, Duangrurdee, Vesely, Mark R., Duggal, Priya, Levine, Jami C., Blume, Elizabeth D., Wolff, Grace S., Edwards, Sam B., Beggs, Alan H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 323 KB

english, 1999

14

Unique PABP2 mutations in ?Cajuns? suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry

Scacheri, Peter C., Garcia, Carlos, H�bert, Richard, Hoffman, Eric P.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 226 KB

english, 1999

15

CALL gene is haploinsufficient in a 3p? syndrome patient

Angeloni, Debora, Lindor, Noralane M., Pack, Svetlana, Latif, Farida, Wei, Ming-Hui, Lerman, Michael I.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 661 KB

english, 1999

16

Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?

Achermann, Sibylla, Largo, Remo, Kotzot, Dieter, Riegel, Mariluce, Schinzel, Albert

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 400 KB

english, 1999

17

M�bius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers

Criado, Germ�n Rodr�guez, Ayt�s, Antonio P�rez

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 341 KB

english, 1999

18

Trisomy 8 mosaicism in a with patient tetraamelia

G�tze, Annemarie, Krebs, Petra, Stumm, Markus, Wieacker, Peter, Allhoff, Ernst P.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 112 KB

english, 1999

19

High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim

Sobe, Tama, Erlich, Porat, Berry, Asher, Korostichevsky, Michael, Vreugde, Sarah, Avraham, Karen B., Bonn�-Tamir, Batsheva, Shohat, Mordechai

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 40 KB

english, 1999

20

28-year follow-up of the craniofacial findings in a patient with craniometaphyseal dysplasia

Feingold, Murray

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 132 KB

english, 1999

21

Dubowitz syndrome: A defect in the cholesterol biosynthetic pathway?

Ahmad, Ayesha, Amalfitano, Andrea, Chen, Yuan-Tsong, Kishnani, Priya Sunil, Miller, Cindy, Kelley, Richard

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 125 KB

english, 1999

22

Hormone resistance syndromes. Contemporary endocrinology series

Rallison, Marvin L.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 28 KB

english, 1999

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