Volume 66; Issue 2

American Journal of Medical Genetics

Volume 66; Issue 2

1

Four sibs with arterial tortuosity: Description and review of the literature

Pletcher, B.A., Fox, J.E., Boxer, R.A., Singh, S., Blumenthal, D., Cohen, T., Brunson, S., Tafreshi, P., Kahn, E.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 766 KB

english, 1996

2

Type 3 Pfeiffer syndrome with normal thumbs

Kerr, Natalie C., Sid Wilroy, R., Kaufman, Robert A.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 525 KB

english, 1996

3

Hemihypertrophy, hemimegalencephaly, and polydactyly

Reardon, William, Harding, Brian, Winter, Robin M., Baraitser, Michael

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 679 KB

english, 1996

4

Sutural exostoses, rib hyperostoses, craniosynostosis, mental retardation with focal fat deposition: Proteus syndrome?

Christianson, Arnold L., Van Allen, Margot I.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 381 KB

english, 1996

5

Osteoglophonic dysplasia: Review and further delineation of the syndrome

Brooks, S. Sklower, Kassner, G., Qazi, Q., Keogh, M.J., Gorlin, R.J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 727 KB

english, 1996

6

Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis

Kondo, Eri, Saito, Kayoko, Toda, Tatsushi, Osawa, Makiko, Yamamoto, Tomoko, Kobayashi, Makio, Fukuyama, Yukio

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 610 KB

english, 1996

7

X-linked Charcot-Marie-Tooth disease: Molecular analysis of interfamilial variability

Niewiadomski, Laura A., Kelly, Thaddeus E.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 340 KB

english, 1996

8

X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: Possible new syndrome

Seemanová, Eva, Lesný, Ivan

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 415 KB

english, 1996

9

De novo balanced translocation (6;18)(q21;q21.3) in a patient with heterotaxia

Kato, Rumiko, Yamada, Yutaka, Niikawa, Norio

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 279 KB

english, 1996

10

Application of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis

Schad, Chris R., Kuffel, Daniel G., Wyatt, William A., Zinsmeister, Alan R., Jenkins, Robert B., Dewald, Gordon W., Jalal, Syed M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 572 KB

english, 1996

11

Mosaicism for del(17) (p11.2p11.2) underlying the Smith-Magenis syndrome

Juyal, Ramesh C., Kuwano, Akira, Kondo, Ikuko, Zara, Federico, Baldini, Antonio, Patel, Pragna I.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 471 KB

english, 1996

12

Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements

Cotter, Philip D., Caggana, Michele, Willner, Judith P., Babu, Arvind, Desnick, Robert J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 321 KB

english, 1996

13

Abnormal head MRI in a neurologically normal boy with hypomelanosis of Ito

Fryburg, Julie S., Lin, Kant Y., Matsumoto, Julie

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 452 KB

english, 1996

14

Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16

Schneider, Adele S., Bischoff, Farideh Z., McCaskill, Christopher, Coady, Mary Luz, Stopfer, Jill E., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 561 KB

english, 1996

15

An autosomal dominant triphalangeal thumb: Polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36

Radhakrishna, Uppala, Blouin, Jean-Louis, Solanki, Jitendra V., Dhoriani, Ghanshyam M., Antonarakis, Stylianos E.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 590 KB

english, 1996

16

Ring chromosome 18 in a fetus with only facial anomalies

Los, Frans J., van den Berg, Cardi, Braat, Armando P.G., Cha'ban, Firas K., Kros, Johan M., Opstal, Diane Van

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 491 KB

english, 1996

17

Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions

Bürger, Joachim, Kunze, Jürgen, Sperling, Karl, Reis, André

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 606 KB

english, 1996

18

Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families

Hughes-Benzie, R.M., Pilia, G., Xuan, J.Y., Hunter, A.G.W., Chen, E., Golabi, M., Hurst, J.A., Kobori, J., Marymee, K., Pagon, R.A., Punnett, H.H., Schelley, S., Tolmie, J.L., Wohlferd, M.M., Grossman

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 719 KB

english, 1996

19

Verbal-performance discrepancies in a family with Noonan syndrome

Cornish, Kim M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 221 KB

english, 1996

20

Duchenne muscular dystrophy and idiopathic hyperCKemia in a family causing confusion in genetic counselling

Bushby, Katharine, Goodship, Judith, Haggerty, Daisy, Heald, Andrew, Walls, Timothy

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 136 KB

english, 1996

21

Ehlers-Danlos syndrome type VIII and leukodystrophy

Spranger, Stephanie, Spranger, Matthias, Kirchhof, Klaus, Steinmann, Beat

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 205 KB

english, 1996

22

Segmental forms of autosomal dominant skin disorders: Different types of severity reflect different states of zygosity

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 144 KB

english, 1996

23

Erratum

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 27 KB

1996

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