Volume 75; Issue 5

American Journal of Medical Genetics

Volume 75; Issue 5

1

Prominent, constricted ears with malformed condyle of the mandible

Jampol, Michael, Repetto, Gabriela, Keith, David A., Curtin, Hugh, Remensnyder, John, Holmes, Lewis B.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 318 KB

english, 1998

2

Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: A distinct autosomal-recessive disorder

Sarralde, Augusto, Reynoso, Martha C., Nazar�, Zamira, Soto, Fernando, Hern�ndez, Alejandro

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 498 KB

english, 1998

3

Psychosocial and educational outcomes associated with home- and clinic-based pretest education and cystic fibrosis carrier testing among a population of at-risk relatives

Cheuvront, B., Sorenson, J.R., Callanan, N.P., Stearns, S.C., DeVellis, B.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 69 KB

english, 1998

4

Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities

Grange, Dorothy K., Balfour, Ian C., Chen, Su-chiung, Wood, Ellen G.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 626 KB

english, 1998

5

Familial neuronal migration disorder: Subcortical laminar heterotopia in a mother and pachygyria in the son

Toyama, Jun, Kasuya, Hidetoshi, Higuchi, Sari, Kondo, Hiroshi, Naganuma, Yoshihiro, Uchiyama, Makoto

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 172 KB

english, 1998

6

Evidence for major genetic control of wheeze in relation to history of respiratory allergy: Humboldt family study

Chen, Yue, Rennie, Donna C., Lockinger, Lori A., Dosman, James A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 51 KB

english, 1998

7

Dyskeratosis congenita with linear areas of severe cutaneous involvement

Baselga, Eulalia, Drolet, Beth A., van Tuinen, Peter, Esterly, Nancy B., Happle, Rudolf

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 264 KB

english, 1998

8

Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

Bermejo, Eva, Mart�nez-Fr�as, Mar�a-Luisa

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 83 KB

english, 1998

9

Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Gouti�res

Kumar, D., Rittey, C., Cameron, A.H., Variend, S.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 341 KB

english, 1998

10

X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)

Hodes, M.E., Hadjisavvas, Andreas, Butler, Ian J., Aydanian, Antonina, Dlouhy, Stephen R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 102 KB

english, 1998

11

Antenatal diagnosis of lethal skeletal dysplasias

Tretter, Anne E., Saunders, Roger C., Meyers, Carol M., Dungan, Jeffrey S., Grumbach, Kathryn, Sun, Chen-Chih J., Campbell, Andrew B., Wulfsberg, Eric A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 60 KB

english, 1998

12

Grebe syndrome: Clinical and radiographic findings in affected individuals and heterozygous carriers

Costa, Teresa, Ramsby, Gale, Cassia, Fatima, Peters, Klaus-Ruediger, Soares, Jose, Correa, Jord�o, Quelce-Salgado, Antonio, Tsipouras, Petros

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 361 KB

english, 1998

13

New case of mosaic tetrasomy 9p with additional neurometabolic findings

Eggermann, Thomas, Rossier, Eva, Theurer-Mainka, Ute, Backsch, Claudia, Klein-Vogler, Ute, Enders, Herbert, Kaiser, Peter

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 171 KB

english, 1998

14

Deletion 8p syndrome

Digilio, Maria Cristina, Marino, Bruno, Guccione, Paolo, Giannotti, Aldo, Mingarelli, Rita, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 25 KB

english, 1998

15

Subglottic web in a mother and son with 22q11.2 deletion

Marble, Michael, Morava, Eva, Tsien, Fern, Amedee, Ronald, Pierce, Maria

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 13 KB

english, 1998

16

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome

Ligon, Azra H., Potocki, Lorraine, Shaffer, Lisa G., Stickens, Dominique, Evans, Glen A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 62 KB

english, 1998

17

Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome

Battaglia, Agatino, Carey, John C.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 13 KB

english, 1998

18

The ethics of human gene therapy

Fraser, F. Clarke

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 16 KB

english, 1998

19

Bilateral Poland anomaly

İbrahim Karnak, F. Cahit Tanyel, Ergül Tunçbilek, Metin Ünsal, Nebil Büyükpamukçu

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 122 KB

english, 1998

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