Volume 82; Issue 2

American Journal of Medical Genetics

Volume 82; Issue 2

1

1p microdeletion in sibs with minimal phenotypic manifestations

Mart�nez, Jos� E., Tuck-Muller, Cathy M., Gasparrini, William, Li, Shibo, Wertelecki, Wladimir

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 241 KB

english, 1999

2

Carey-Fineman-Ziter (CFZ) syndrome: Report on affected sibs

Ryan, Anna, Marshall, Tom, FitzPatrick, David R.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 337 KB

english, 1999

3

Family studies of infantile visceral myopathy: A congenital myopathic pseudo-obstruction syndrome

Guz�, Carol D., Hyman, Paul E., Payne, Valerie J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 208 KB

english, 1999

4

Behavior and emotional disturbance in Prader-Willi syndrome

Einfeld, Stewart L., Smith, Arabella, Durvasula, Seeta, Florio, Tony, Tonge, Bruce J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 154 KB

english, 1999

5

Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart

Bacino, Carlos A., Lee, Brendan, Spikes, Aimee S., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 799 KB

english, 1999

6

Different mutations in the same codon of the proteolipid protein gene,PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)

Hodes, M.E., Zimmerman, Andrew W., Aydanian, Antonina, Naidu, Sakkubai, Miller, Neil R., Oller, Jos� L. Garcia, Barker, Bruce, Aleck, Kirk A., Hurley, Thomas D., Dlouhy, Stephen R.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 530 KB

english, 1999

7

Ectopic bronchus: An insufficiently recognized malformation causing respiratory morbidity in VATER association

Hattori, Haruo, Okazaki, Shin, Higuchi, Yoshihisa, Yoshibayashi, Muneo, Yamamoto, Tetsuo

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 277 KB

english, 1999

8

Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: Case report

Kramer, Ralph L., Feldman, Baruch, Ebrahim, Salah A.D., Kasperski, Stefanie B., Johnson, Mark P., Evans, Mark I.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 161 KB

english, 1999

9

Persistent truncus arteriosus in monozygotic twins: Case report and literature review

Mas, C., Delatycki, M.B., Weintraub, R.G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 139 KB

english, 1999

10

Frequencies of chromosomal abnormalities at amniocentesis: Over 20 years of cytogenetic analyses in one laboratory

Caron, Lorraine, Tihy, Fr�d�rique, Dallaire, Louis

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 200 KB

english, 1999

11

Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia

Noone, Peadar G., Bali, Deeksha, Carson, Johnny L., Sannuti, Aruna, Gipson, Clay L., Ostrowski, Lawrence E., Bromberg, Philip A., Boucher, Richard C., Knowles, Michael R.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 362 KB

english, 1999

12

Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22

Anderson, Jennifer L., Khan, Mehmood, David, William S., Mahdavi, Zohreh, Nuttall, Frank Q., Krech, Elizabeth, West, Sandra G., Vance, Jeffery M., Pericak-Vance, Margaret A., Nance, Martha A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 381 KB

english, 1999

13

Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts: A new syndrome?

Balc?, Sevim, Bostano?lu, Sevin�, Alt?nok, G�l�in, �zalt?n, Fatih

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 882 KB

english, 1999

14

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome

Gripp, Karen W., Stolle, Catherine A., Celle, Livija, McDonald-McGinn, Donna M., Whitaker, Linton A., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.16 MB

english, 1999

15

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

Shaag, Avraham, Saada, Ann, Berger, Itai, Mandel, Hanna, Joseph, Adina, Feigenbaum, Annette, Elpeleg, Orly N.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 371 KB

english, 1999

16

A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome

Balarin, Marly Aparecida Spadotto, Lopes, Vera L�cia Gil da Silva, Varella-Garcia, Marileila

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 468 KB

english, 1999

17

Costello syndrome: Report and review

van Eeghen, Agnies M., van Gelderen, Ietje, Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 259 KB

english, 1999

18

Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: The M syndrome

Rauch, Anita, Feindt, Karla A., Leonard, Claire O., Thompson, Joel A., Hoffman, Robert O., Creel, Donnell J., Opitz, John M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 258 KB

english, 1999

19

Importance of measuring plasma cholesterol precursors

Bodamer, O.A.F., Craigen, W.J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 131 KB

english, 1999

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