Search Results - "Marçallo, F A"

Genetics of acheiropodia ("the handless and footless families of Brazil"): XI. Pathologic aspects by Marçallo, F A, Pilotto, R F, Freire-Maia, A

“…We report another case of acheiropodia, a rare autosomal recessive trait of distal limb deficiency, to date seen only in Brazil in persons of Portuguese…”
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Genetic investigations in a Northern Brazilian island. II. Random drift by Freire-Maia, N, de Andrade, F L, de Athayde-Neto, A, Cavalli, I J, Oliveira, J C, Marçallo, F A, Coelho, A

“…18 albinos were born on Lençóis island. Since 3 of them died and 5 emigrated, the prevalence of albinism is about 3% in the island. 2 inbred brothers with…”
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Study of a child with an "idiopathic" malformation/mental retardation syndrome by Pilotto, R F, Marçallo, F A, Opitz, J M

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New Recurrent Series in Inbreeding Phenomena by MARÇALLO, F. A, FREIRE-MAIA, N

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Hemihypotrophy in a girl with a translocation t(13q;7p) by Marçallo, F A, Werneck, L C, Pilotto, R F, Opitz, J M

“…A 10 year old girl with a mental age of 7-8 years, normal height and head circumference and several minor anomalies had hemiasymmetry of the entire body, the…”
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Síndrome de Cornelia de Lange by Werneck, Lineu Cesar, Marçallo, F. A.

“…É relatado um caso do síndrome de Cornelia de Lange em menina de 9 anos de idade, caracterizado por deficiência mental, hirsutismo, synophris, anormalidades…”
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Fibrous dysplasia and the temporal bone by Barrionuevo, C E, Marçallo, F A, Coelho, A, Cruz, G A, Mocellin, M, Patrocínio, J A

“…The cause of fibrous dysplasia of the bone is obscure. We reviewed the available literature concerning temporal bone involvement and analyzed temporal bone…”
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Syndrome of cellular agony--biochemical characterization by Cat, I, Marçallo, F A, Marinoni, L P, Giraldi, D J, Costa, O, Braga, H

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Random Genetic Drift in the Population of a Brazilian Island by Freire-Maia, N., Cavalli, I. J., Andrade, F. Laynes, Athayde-Neto, A., Oliveira, J. C., Marcallo, F. A., Coelho, A.

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Síndrome de Cornelia de Lange by Werneck, Lineu Cesar, Marçallo, F. A.

“…É relatado um caso do síndrome de Cornelia de Lange em menina de 9 anos de idade, caracterizado por deficiência mental, hirsutismo, synophris, anormalidades…”
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Síndrome de Cornelia de Lange Cornelia de Lange syndrome: a case report by Lineu Cesar Werneck, F. A. Marçallo

“…É relatado um caso do síndrome de Cornelia de Lange em menina de 9 anos de idade, caracterizado por deficiência mental, hirsutismo, synophris, anormalidades…”
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Infantile metachromatic leukodystrophy in twins by Wittig, E O, Marçallo, F A, Pilotto, R F, Mello, L R

“…The authors report two cases of infantile metachromatic leucodystrophy in monozygotic female twins, born from a second cousin marriage (f = 1/32). The zygosity…”
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Sex-chromatin and menstrual cycle by Cavalli, I J, Waldrigues, A, Stueber, N, Marçallo, F A

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Bilateral gonadoblastoma with chromosomal aberration by Piazza, M J, Teixeira, A C, Amaral, M F, Netto, A S, Marçallo, F A

“…A case is presented of a patient with bilateral gonadoblastoma characterized by primary amenorrhea and intense, generalized hirsutism. The physical examination…”
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INBREEDING EFFECT ON MORTALITY AND MORBIDITY IN SOUTH BRAZILIAN POPULATIONS by MARCALLO, F A, FREIRE-MAIA, N, AZEVEDO, J B, SIMOES, I A

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A new malformation syndrome? by Freire-Maia, N, Cat, I, Lopes, V L, Chautard, E A, Marcallo, F A, Cavalli, I J, Pilotto, R F, Schetino, M C, Bedrossian AA der

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Genetic load in Brazilian Indians by SALZANO, F M, MARCALLO, F A, FREIRE-MAIA, N, KRIEGER, H

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Jervell and Lange-Nielsen cardioauditory syndrome by Ferreira M das, G, da Cunha, G P, Marçallo, F A

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Cornelia de Lange's syndrome by Werneck, L C, Marçallo, F A

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Infantile metachromatic leukodystrophy in twins by Wittig, E O, Marçallo, F A, Pilotto, R F, Mello, L R

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