Volume 45; Issue 3

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Annales de Génétique
Volume 45; Issue 3

Annales de Génétique

Volume 45; Issue 3

1

A cytogenetic study of Kuwaiti couples with infertility and reproductive disorders: short arm deletion of chromosome 21 is associated with male infertility

Moussa Alkhalaf, Lilly Verghese, Nabil Muharib

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 110 KB

english, 2002

2

Severe bone changes in a case of Hutchinson–Gilford syndrome

Giselle Helena de Paula Rodrigues, Izilda das Eiras Tâmega, Gustavo Duque, Vicente Spinola Dias Neto

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 332 KB

english, 2002

3

A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea

S. Calvano, G.P. de Cillis, A.I. Croce, G. Perla, A. Notarangelo, L. Zelante

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 149 KB

english, 2002

4

TPA stimulation culture for improved detection of t(11;14)(q13;q32) in mantle cell lymphoma

Emmanuelle Barouk-Simonet, Joris Andrieux, Marie-Christine Copin, Nathalie Grardel-Duflos, Pauline Huyghe, Jean-Hugues Patte, Claude Preudhomme, Bruno Quesnel, Jean-Luc Laï

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 56 KB

english, 2002

5

Cytogenetic survey of 117 Tunisian patients with de novo myelodysplastic syndrome

Halima Sennana Sendi, Haifa Hichri, Hatem Elghezal, Moez Gribaa, Adnène Laatiri, Moez Elloumi, Raihane Ben Lakhal, Ali Saad

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 53 KB

english, 2002

6

Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)—a case report and a family study

Barbara Wysocka, Izabela Brożek, Jolanta Wierzba, Iwona Kardaś, Agnieszka Woźniak, Jerzy Kowalczyk, Anna Balcerska, Janusz Limon

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 141 KB

english, 2002

7

Prenatal detection of a paracentric inversion 16(q11.2q13)

C. Pérez, E. Lloveras, L. Zamora, C. Melero, E. Pérez, A. Plaja

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 49 KB

english, 2002

8

Endoreduplication of the hyperhaploid maternal complement and abnormal pronuclear formation in a human zygote obtained after intracytoplasmic sperm injection

Bernd Rosenbusch, Birgitta Glaeser, Cosima Brucker, Michael Schneider

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 98 KB

english, 2002

9

Hyperphenylalaninemia and birth weight

Sebastiano Bianca, Concetta Meli, Barbara Barrano, Florindo Mollica

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 92 KB

english, 2002

10

Mutation screening of the muscarinic m2 and m3 receptor genes in asthmatics, outgrow subjects, and normal controls

Toshiko Yamamoto, Naomi Yamashita, Maya Kuwabara, Junichi Nakano, Hideo Sugimoto, Kazuo Akiyama, Koichi Hirai, Akira Ishii, Yoshio Uehara, Ken Ohta

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 108 KB

english, 2002

11

Ring chromosome 8 and translocation t(8;21) in a patient with acute myeloblastic leukemia

Roland Berger, Maryvonne Busson

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 120 KB

english, 2002

12

Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies

Claude Stoll, Y Alembik, B Dott, M.P Roth

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 82 KB

english, 2002

13

Distal trisomy 10q and limb defects

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 44 KB

english, 2002

14

Non-allelic heterogeneity in familial unilateral renal adysplasia

Salvatore Li Volti, Antonio Faiella, Silverio Perrotta, Giovanni Li Volti, Giuliana Lama, Sebastiano Bianca, Edoardo Boncinelli

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 105 KB

english, 2002

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