Szpiro-Tapia S - Search Results

1

Linkage studies in X-linked Alport's syndrome.

Szpiro-Tapia S, Bobrie G, Guilloud-Bataille M, Heuertz S, Julier C, Frézal J, Grünfeld JP, Hors-Cayla MC. Szpiro-Tapia S, et al. Hum Genet. 1988 Dec;81(1):85-7. doi: 10.1007/BF00283736. Hum Genet. 1988. PMID: 2904407

2

Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11.

Sefiani A, Sinnett D, Abel L, Szpiro-Tapia S, Heuertz S, Craig I, Fraser N, Kruse TA, Frydman M, Peter MO, et al. Sefiani A, et al. Among authors: szpiro tapia s. Hum Genet. 1988 Nov;80(3):282-6. doi: 10.1007/BF01790098. Hum Genet. 1988. PMID: 3192215

3

Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.

Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, Heuertz S, Le Marec B, Frézal J, Maroteaux P, Hors-Cayla MC. Szpiro-Tapia S, et al. Hum Genet. 1988 Dec;81(1):61-3. doi: 10.1007/BF00283731. Hum Genet. 1988. PMID: 3198127

4

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].

Szpiro-Tapia S, Kaplan J, Pelet A, Guilloud-Bataille M, Heuertz S, Nivelon-Chevallier A, Mathieu M, Piussan C, Journel H, Dodinval P, et al. Szpiro-Tapia S, et al. Ann Pediatr (Paris). 1990 Jan;37(1):13-9. Ann Pediatr (Paris). 1990. PMID: 2316957 French.

5

[Oculocerebrorenal syndrome in a girl].

Frézal J, Hors-Cayla MC, Szpiro-Tapia S. Frézal J, et al. Arch Fr Pediatr. 1986 Aug-Sep;43(7):537. Arch Fr Pediatr. 1986. PMID: 3800569 French. No abstract available.

6

Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation.

Daïkha-Dahmane F, Huten Y, Morvan J, Szpiro-Tapia S, Nessmann C, Eydoux P. Daïkha-Dahmane F, et al. Among authors: szpiro tapia s. Am J Med Genet. 1998 Dec 28;80(5):514-7. doi: 10.1002/(sici)1096-8628(19981228)80:5<514::aid-ajmg15>3.0.co;2-0. Am J Med Genet. 1998. PMID: 9880219

7

Chromosomal prenatal diagnosis: study of 936 cases of intrauterine abnormalities after ultrasound assessment.

Eydoux P, Choiset A, Le Porrier N, Thépot F, Szpiro-Tapia S, Alliet J, Ramond S, Viel JF, Gautier E, Morichon N, et al. Eydoux P, et al. Among authors: szpiro tapia s. Prenat Diagn. 1989 Apr;9(4):255-69. doi: 10.1002/pd.1970090405. Prenat Diagn. 1989. PMID: 2654910

8

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.

Biancalana V, Beldjord C, Taillandier A, Szpiro-Tapia S, Cusin V, Gerson F, Philippe C, Mandel JL. Biancalana V, et al. Among authors: szpiro tapia s. Am J Med Genet A. 2004 Sep 1;129A(3):218-24. doi: 10.1002/ajmg.a.30237. Am J Med Genet A. 2004. PMID: 15326620

9

Pregnancy outcome following prenatal diagnosis of an isodicentric X chromosome: first case report.

Lebbar A, Viot G, Szpiro-Tapia S, Baverel F, Rabineau D, Dupont JM. Lebbar A, et al. Among authors: szpiro tapia s. Prenat Diagn. 2002 Nov;22(11):973-5. doi: 10.1002/pd.444. Prenat Diagn. 2002. PMID: 12424758

10

Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27407 prenatal diagnoses.

Lewin P, Kleinfinger P, Bazin A, Mossafa H, Szpiro-Tapia S. Lewin P, et al. Among authors: szpiro tapia s. Prenat Diagn. 2000 Jan;20(1):1-6. Prenat Diagn. 2000. PMID: 10701842

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