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Prenatal diagnosis of trisomy 9 mosaicism: two new cases.
Prenat Diagn. 1993 Oct;13(10):1001-7. doi: 10.1002/pd.1970131016.
Prenat Diagn. 1993.
PMID: 8309895
Digeorge syndrome with total monosomy 22 diagnosed prenatally.
Merino A, De Perdigo A, Nomballais F, Yvinec M, Lopes P.
Merino A, et al. Among authors: de perdigo a.
Prenat Diagn. 1995 Feb;15(2):189-92. doi: 10.1002/pd.1970150215.
Prenat Diagn. 1995.
PMID: 7784374
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Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis.
Verschraegen-Spae MR, van Roy N, de Perdigo A, de Paepe A, Speleman F.
Verschraegen-Spae MR, et al. Among authors: de perdigo a.
Prenat Diagn. 1993 May;13(5):385-94. doi: 10.1002/pd.1970130511.
Prenat Diagn. 1993.
PMID: 8341637
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Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, Boudjenah R, Guerra-Junior G, Maciel-Guerra AT, Achermann JC, McElreavey K, Bashamboo A.
Lourenço D, et al. Among authors: de perdigo a.
N Engl J Med. 2009 Mar 19;360(12):1200-10. doi: 10.1056/NEJMoa0806228. Epub 2009 Feb 25.
N Engl J Med. 2009.
PMID: 19246354
Free PMC article.
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Male sterility and double heterozygosity for chromosomal inversion.
Rumpler Y, Gabriel-Robez O, Volobouev V, Yu W, Rasamimanana P, de Perdigo A.
Rumpler Y, et al. Among authors: de perdigo a.
Cytogenet Cell Genet. 1995;69(1-2):66-70. doi: 10.1159/000133940.
Cytogenet Cell Genet. 1995.
PMID: 7835090
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Analysis of synaptonemal complexes in a heterozygous human male carrier of a reciprocal translocation involving an acrocentric chromosome: heterosynapsis without previous homosynapsis.
de Perdigo A, Gabriel-Robez O, Rumpler Y.
de Perdigo A, et al.
Hum Genet. 1991 Sep;87(5):602-6. doi: 10.1007/BF00209021.
Hum Genet. 1991.
PMID: 1916763
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Synaptonemal complex analysis in a human male carrier of a 4;6 translocation: heterosynapsis without previous homosynapsis.
de Perdigo A, Gabriel-Robez O, Ratomponirina C, Rumpler Y.
de Perdigo A, et al.
Hum Genet. 1991 Jan;86(3):279-82. doi: 10.1007/BF00202409.
Hum Genet. 1991.
PMID: 1997382
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Correlation between chromosomal breakpoint positions and synaptic behaviour in human males heterozygous for a pericentric inversion.
de Perdigo A, Gabriel-Robez O, Rumpler Y.
de Perdigo A, et al.
Hum Genet. 1989 Oct;83(3):274-6. doi: 10.1007/BF00285171.
Hum Genet. 1989.
PMID: 2793171
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