Génétique médicale

Graziano Pescia
Professeur à la Faculté de Médecine de Lausanne
FMH Génétique médicale, FAMH Génétique médicale
Directeur médical des Laboratoires AMS
Place de la Navigation, 10, 1006 Lausanne, Suisse
Téléphone : +41 21 613 70 40 / Fax : +41 21 613 70 49
graziano.pescia@amslab.ch

Présentations

• 1984-2004 : Vingt ans de dépistages et après ?
• Conseil génétique chez les hommes exposés aux agents mutagènes
• Nuovi sviluppi della citogenetica medica in pediatria
• Un nouveau concept pour le diagnostic prénatal

Publications

1: Muller HJ, Deonna T, Abbt I, Bachmann C, Bar W, Bruckner Ch, Buhler E, Courvoisier B, Dayer P, Fuchs E, Gelzer J, Guillod O, Gutzwiller F, Heierli C, Hitzig W, Moser H,Mohr-Baumann E, Pescia G, Sitter-Liver B, Thevoz JM, Waldboth Y, Weber W, Wicki S. Medical-ethical guidelines for genetic investigations in humans. Schweiz Med Wochenschr. 1994 Jun 4;124(22):974-

2: Bojinova RI, Schorderet DF, Addor MC, Gaide AC, Thonney F, Pescia G, Nenadov-Beck M, Balmer A, Munier FL. Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients. Ophthalmic Genet. 2001 Mar;22(1):11-8.

3: Monney C, Pescia G, Addor MC. [Turner syndrome] Schweiz Med Wochenschr. 2000 Sep 23;130(38):1339-43.

4: Pescia G, Addor MC.[Trisomy 21 and its prenatal detection in the Canton of Vaud (1980-1996) Schweiz Med Wochenschr. 2000 Sep 23;130(38):1332-8.

5: Addor MC, Pescia G, Schorderet DF. Registration of congenital anomalies in Switzerland by EUROCAT. Schweiz Med Wochenschr. 2000 Sep 23;130(38):1319-25. Erratum in: Schweiz Med Wochenschr 2000 Dec 23;130(51-52):2026.

6: Pescia G, Ditesheim PJ, Faway C, Nguyen-The H, Schmid D, Brioschi PA. Early screening of fetal aneuploidies (c-beta P/us TEST. Report of 600 observations] Rev Med Suisse Romande. 2000 May;120(5):435-41.

7: Lacombe D, Pescia G. Approach to the abnormal child] Rev Med Suisse Romande. 2000 May;120(5):425-9.]

8: Munier FL, Thonney F, Girardet A, Balmer A, Claustre M, Pellestor F, Senn A, Pescia G, Schorderet DF. Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis. Am J Hum Genet. 1998 Dec;63(6):1903-8.

9: Addor MC, Gudinchet F, Laurini RN, Pescia G, Schorderet DF. A new case of Pfeiffer syndrome with mutation in FGFR2. Genet Couns. 1997;8(4):303-9.

10: Pescia G. Genetic services in Switzerland. Eur J Hum Genet. 1997;5 Suppl 2:174-7.

11: Yersin C, Bovet P, Wauters JP, Schorderet DF, Pescia G, Paccaud F. Frequency and impact of autosomal dominant polycystic kidney disease in the Seychelles (Indian Ocean). Nephrol Dial Transplant. 1997 Oct;12(10):2069-74.

12: Pescia G, Perey L. Predictive oncology and familial breast cancer Rev Med Suisse Romande. 1997 Aug;117(8):603-6. Review.

13: Munier FL, Thonney F, Balmer A, Uffer S, Heon E, Van Melle G, Rutz HP, Pescia G, Schorderet DF. Prognostic factors associated with loss of heterozygosity at the RB1 locus in retinoblastoma. Ophthalmic Genet. 1997 Mar;18(1):7-12.

14: Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, Schorderet DF. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997 Mar;15(3):247-51.

15: Thonney F, Munier FL, Balmer A, Pescia G, Schorderet DF. [Retinoblastoma: clinical and molecular diagnostic aspects] Schweiz Rundsch Med Prax. 1996 Aug 27;85(35):1058-62. Review. French.

16: Pescia G, Schorderet DF. [Genetic counseling in oncology] Schweiz Rundsch Med Prax. 1996 Aug 27;85(35):1027-31..

17: Bernasconi A, Regli F, Schorderet DF, Pescia G. Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family Rev Neurol (Paris). 1996 Jun-Jul;152(6-7):447-50. Review.

18: Munier FL, Thonney F, Balmer A, Heon E, Pescia G, Schorderet DF.
Sex mutation ratio in retinoblastoma and retinoma: relevance to genetic counseling.
Klin Monatsbl Augenheilkd. 1996 May;208(5):400-3.

19: Heon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G, Schorderet D, Taylor CM, Streb LM, Wiles CD, Nishimura DY, Sheffield VC, Stone EM.
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch Ophthalmol. 1996 Feb;114(2):193-8.

20: Korvatska E, Munier FL, Zografos L, Ahmad F, Faggioni R, Dolivo-Beuret A, Uffer S, Pescia G, Schorderet DF. Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX. Eur J Hum Genet. 1996;4(4):214-8.

21: Lendi B, Pescia G, Thonney F, Balmer A, Munier F. [Clinical applications of molecular diagnosis of retinoblastoma ain 15 families] Klin Monatsbl Augenheilkd. 1995 May;206(5):336-8.

22: Bersinger NA, Marguerat P, Pescia G, Schneider H. Pregnancy-associated plasma protein A (PAPP-A): measurement by highly sensitive and specific enzyme immunoassay, importance of first-trimester serum
determinations, and stability studies. Reprod Fertil Dev. 1995;7(6):1419-23.

23: Bersinger NA, Zakher A, Huber U, Pescia G, Schneider H. A sensitive enzyme immunoassay for pregnancy-associated plasma protein A (PAPP-A): a possible first trimester method of screening for Down syndrome and other trisomies. Arch Gynecol Obstet. 1995;256(4):185-92.

24: Fokstuen S, Pescia G, Addor MC, Gaide AC, Marguerat P, Maillard C, Vial Y, Hohlfeld P, Nguyen The H.
[Prenatal diagnosis of genetic diseases: Lausanne experience 1989-1993] Rev Med Suisse Romande. 1994 Dec;114(12):1055-65. Review.

25: Fokstuen S, Pescia G, Addor MC. [Genetic aspects of fetal hydrops and cystic hygroma] Rev Med Suisse Romande. 1994 Dec;114(12):1051-4.

26: Munier FL, Arabien L, Flodman P, Spence MA, Pescia G, Rutz HP, Murphree AL. Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees. Hum Genet. 1994 Nov;94(5):484-90..

27: Marguerat P, Addor MC, Pescia G, Maillard-Brignon C, Laurini RN, Hohlfeld P, Vial Y, Weihs D.
[Defects in neural tube closure in the Vaud canton 1980-1992. The impact of prenatal diagnosis] Rev Med Suisse Romande. 1994 Oct;114(10):851-9. 28:

28 :Schorderet DF, Pescia G, Bernasconi A, Regli F. An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene. Hum Mol Genet. 1994 Jul;3(7):1201

29: Krupp S, Wiesner L, Krstic R, Pescia G, Winistorfer B. Mid-term results with cultured epidermal autografts, allogenic skin transplants and cyclosporin A medication. Burns. 1994 Feb;20(1):15-20.

30: Hohlfeld P, Vial Y, Pescia G. Absence or reduction of total IgM in fetal blood as an indication for cytogenetic analysis? Prenat Diagn. 1994 Jan;14(1):75-6]

31: Pescia G, Fokstuen S, Thonney F. [Applications of fluorescence in situ hybridization in prenatal diagnosis]
Arch Gynecol Obstet. 1994;255 Suppl 2:S367-71]

32: Munier FL, Wang MX, Spence MA, Thonney F, Balmer A, Pescia G, Donoso LA, Murphree AL. Pseudo low penetrance in retinoblastoma. Fortuitous familial aggregation of sporadic cases caused by independently derived mutations in two large pedigrees. Arch Ophthalmol. 1993 Nov;111(11):1507-11. Erratum in: Arch Ophthalmol 1994 May;112(5):654.

33: Hohlfeld P, Vial Y, Pescia G. [Cytogenetic studies of fetal blood: biological disturbances associated with karyotype abnormalities] Rev Med Suisse Romande. 1993 Apr;113(4):313-7.

34: Schorderet DF, Thonney F, Pillet N, Delozier-Blanchet C, Marguerat P, Pescia G. [Molecular analysis of 68 Swiss-Romance subjects at risk for fragile X syndrome] Rev Med Suisse Romande. 1993 Apr;113(4):309-11.

35: Thonney F, Pescia G. [Fluorescent in-situ hybridization and molecular cytogenetics] Rev Med Suisse Romande. 1993 Apr;113(4):305-8.]

36: Gaide AC, Munier F, Suardet L, Pescia G. [Chromosome abnormalities in solid tumors: various examples studied at the department of medical genetics] Rev Med Suisse Romande. 1993 Apr;113(4):287-90.

37: Addor MC, Pescia G, Marguerat P. [The Vaud register of congenital abnormalities] Rev Med Suisse Romande. 1993 Apr;113(4):265-71.

38: Pescia G. [Genetics. Observations in the guise of an editorial] Rev Med Suisse Romande. 1993 Apr;113(4):261-3.

39: Pescia G, Van Melle G, Thonney F, Auer C, Schorderet D, Fokstuen S. [Towards systematic screening for mucoviscidosis?] Rev Med Suisse Romande. 1993 Apr;113(4):281-6.

40: Pescia G, Dao MH, Weihs D, Gaide AC, Loertscher A, Hohlfeld P, Marguerat P, Nguyen The H, Paccaud F, Maillard C, et al. [Triple screening for trisomy 21: prospective results of 7039 assessments] Rev Med Suisse Romande. 1993 Apr;113(4):277:

41: Marguerat P, Weihs D, Pescia G, Gaide AC, Addor MC, Nguyen The H. [Alpha-fetoprotein and chromosome aberrations: what else? Results of a prospective study concerning 15,533 pregnancies] Rev Med Suisse Romande. 1993 Apr;113(4):273-6.

42: Ciafaloni E, Santorelli FM, Shanske S, Deonna T, Roulet E, Janzer C, Pescia G, DiMauro S. Maternally inherited Leigh syndrome. J Pediatr. 1993 Mar;122(3):419-22.

43: Munier F, Spence MA, Pescia G, Balmer A, Gailloud C, Thonney F, van Melle G, Rutz HP. Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene. Hum Genet. 1992 Jul;89(5):508-12.

44: Adjahoto EO, De Grandi P, Maillard-Brignon C, Pescia G. [Ultrasonic diagnosis of a hereditary multiple malformation syndrome: Meckel-Gruber syndrome or Carpenter-Hunter syndrome] J Gynecol Obstet Biol Reprod (Paris). 1992;21(8):928-33.]

45: Munier F, Balmer A, von Moos C, Pescia G, Gailloud C, van Melle G, Thonney F, Gaide AC, Allaz MJ, Rutz HP, et al. [Lausanne study of retinoblastoma, 1986-90: deletion of esterase D locus in a collective of 128 patients] Klin Monatsbl Augenheilkd. 1991 May;198(5):419-24

46: Munier F, Pescia G, Jotterand-Bellomo M, Balmer A, Gailloud C, Thonney F. Constitutional karyotype in retinoblastoma. Case report and review of literature. Ophthalmic Paediatr Genet. 1989 Jun;10(2):129-50. Review.

47: Grutter F, Marguerat P, Maillard-Brignon C, De Grandi P, Pescia G. [Thoracopagus fetus. Ultrasonic diagnosis at 16 weeks] J Gynecol Obstet Biol Reprod (Paris). 1989;18(3):355-9..

48: Klinke S, Paccaud F, Pescia G, Gutzwiller F. [Strategies in screening for chromosome number aberrations in women younger than 35 years of age] Ther Umsch. 1988 Oct;45(10):682-7.

49: Pescia G, Marguerat P. [Prenatal diagnosis and its hazards] Rev Med Suisse Romande. 1988 Jul;108(7):603-6.

50: Balmer A, Gailloud C, Uffer S, Munier F, Pescia G. [Retinoblastoma and pseudoretinoblastoma: diagnostic study] Klin Monatsbl Augenheilkd. 1988 May;192(5):589-92.

51: Munier F, Pescia G, Balmer A, Bar W, Roth M, Dimo-Simonin N, Weidinger S. A "new" allele of esterase D in a retinoblastoma family. Hum Genet. 1988 Mar;78(3):289-90.

52: Jotterand-Bellomo M, Pescia G, Nguyen The H, Gaide AC, Thonney F, Marguerat P, Pacaud F, Munier F. Cytogenetic analysis of 570 first trimester chorionic villi samplings: technique and results. Ann Genet. 1988;31(1):14-20.

53: Pescia G, Marguerat P. [The genetics of mucoviscidosis 50 years later] Rev Med Suisse Romande. 1987 Jul;107(7):577-80.

54: Munier F, Pescia G, Balmer A, Berard C, Bucher P. [Historical notes on retinoblastoma: apropos of 2 ancient terracotta figures] Rev Med Suisse Romande. 1987 Jul;107(7):591-7. French. No abstract available.

55: Marguerat P, Pescia G. [Epidemiology and prevention of trisomy 21 in the Canton of Vaud: 1980-1986] Rev Med Suisse Romande. 1987 Jul;107(7):581-5.

56: Pescia G.[Indications for chorionic villi sampling]Arch Gynecol Obstet. 1987;241 Suppl:S82-4.

57: Paccaud F, Pescia G, N'Guyen The H, Chrzanowski R, Bossart H, Gutzwiller F. [Efficacy and safety of chorionic villi sampling: some preliminary results of a Lausanne group (January-June 1986)] Arch Gynecol Obstet. 1987;241 Suppl:S107-14..

58: Jotterand-Bellomo M, Gaide AC, Thonney F, Pescia G. [Chromosomes of the embryonic trophoblast: preparation and staining] Arch Gynecol Obstet. 1987;241 Suppl:S93-100.

59: Addor MC, Pescia G, Egloff D, Queloz J. [Hereditary multicentric osteolysis] J Genet Hum. 1986 Aug;34(3-4):293-303

60: Pescia G, Nguyen The H. Chorionic villi sampling: point of view of the medical geneticist. Contrib Gynecol Obstet. 1986;15:54-60.

61 : Nguyen The H, Pescia G. Chorionic villi sampling: the Lausanne Study. Contrib Gynecol Obstet. 1986;15:11-9.

62: The HN, Pescia G, Deonna T, Bakaric O. Early prenatal diagnosis of genetic microcephaly. Prenat Diagn. 1985 Sep-Oct;5(5):345-7.

63: Nguyen The H, Stalder JB, De Grandi P, Pescia G, Anderegg A, Bossart H. [Prenatal echographic diagnosis of urinary tract malformations] Rev Med Suisse Romande. 1985 Feb;105(2):141-6.

64: Pescia G, Marguerat P, Nguyen The H, Weihs D. [Is serum alphafetoprotein a marker for the prenatal diagnosis of trisomy?] Rev Med Suisse Romande. 1985 Feb;105(2):137-9.

65: Zoll B, Arnemann J, Krawczak M, Cooper DN, Pescia G, Wahli W, Steinbach P, Schmidtke J. Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX. Hum Genet. 1985;71(2):122-6.

66: Pescia G, Juillard E, Nguyen-The H. [Fertility and genetic counseling in Turner syndrome] J Genet Hum. 1984 Sep;32(4):271-7.

67: Pescia G. [Medical genetics and in vitro fertilization with embryo transfer] J Genet Hum. 1984 Jul;32(3):243-4.

68: Campana A, Balerna M, Pescia G, Van Kooj R, Gatti MY. [Indications for in vitro fertilization and embryo transfer] J Genet Hum. 1984 Jul;32(3):235-41..

69: Addor MC, Pescia G, Guignard JP, Genton N. [Familial study of vesico-ureteral reflux] J Genet Hum. 1984 Jun;32(2):91-100..

70: Tatti V, Marfurt P, Sirchia G, Pescia G, Luscieti P, Losa G. [Familial myeloproliferative syndrome]Schweiz Med Wochenschr. 1984 Feb 11;114(6):196-204.

71: Pescia G, Nguyen-The H, Deonna T. Prenatal diagnosis of genetic microcephaly .Prenat Diagn. 1983 Oct;3(4):363-5.

72: Walt H, Campana A, Balerna M, Domenighetti G, Hedinger C, Jakob M, Pescia G, Sulmoni A. Mosaicism of dynein in spermatozoa and cilia and fibrous sheath aberrations in an infertile man. Andrologia. 1983 Jul-Aug;15(4):295-300.

73: Marguerat P, Pescia G, Nguyen-The H. [Sirenomelia in a dead fetus in utero, discovered by a rise in maternal serum alpha-fetoprotein] Gynakol Rundsch. 1983;23(3):175-9.

74: Pescia G, Weihs D, Nguyen-The H. [Fetal malformations and alpha fetoprotein. Experiences in the Canton of Waadt] Gynakol Rundsch. 1983;22 Suppl 3:48-53

75: Pescia G, Cruz JM, Weihs D. Prenatal diagnosis of prune belly syndrome by means of raised maternal AFP levels. J Genet Hum. 1982 Oct;30(3):271-4.

76: Pelet B, Godard C, Payot M, Pescia G. Congenital neutropenia associated with phlebectasias and persistent fetal circulation. Helv Paediatr Acta. 1982;37(5):475-81.

77: Pescia G, Tonella A, Jotterand-Bellomo M. [Monosomy/trisomy 4q12 to q13 mosaicism in a retarded and dysmorphic girl] Ann Genet. 1982;25(2):110-2.

78: Pescia G, Nguyen The H.[Genetic counseling and prenatal diagnosis in multiple pregnancy]Gynakol Rundsch. 1982;22(2):81-7.

79: Mean F, Pescia G, Vajda D, Felber JP, Magrini G. Amniotic fluid testosterone in prenatal sex determination.
J Genet Hum. 1981 Dec;29(4):441-7.

80: Chenevart P, Nguyen The H, Pescia G, De Grandi P. [Early amniocentesis: answers for the practitioner]
Rev Med Suisse Romande. 1981 Nov;101(11):887-90.

81: Nguyen The H, Pescia G, De Grandi P. [Fetomaternal micro-passage of AFP and early amniocentesis] Rev Med Suisse Romande. 1981 Nov;101(11):891-4

82: Pescia G, Gaide AC, Bossart H. [Alpha-fetoprotein (AFP) in amniotic fluid] Soz Praventivmed. 1981 Sep;26(4):229-30.

83: Pescia G, Jotterand-Bellomo M, Gaide AC. [Incomplete trisomy 22 due to meiotic malsegregation of a familial 11:12 translocation] Rev Med Suisse Romande. 1981 Apr;101(4):325-9.

84: Addor MC, Pescia G, Burgener F, Marguerat P. [When genetic amniocentesis is misleading: apropos of a case of Jeune's syndrome] Rev Med Suisse Romande. 1981 Apr;101(4):319-24.

85: Pescia G, Gaide AC, Jotterand-Bellomo M, Carrel CF. [Clinical and genetic aspects of balanced translocations: apropos of 7 cases] Rev Med Suisse Romande. 1981 Apr;101(4):295-301.

86: Pescia G, Nguyen-The H, Jotterand-Bellomo M, Gaide AC [Prenatal diagnosis in Lausanne: apropos of 1500 cases] Rev Med Suisse Romande. 1981 Apr;101(4):285-8

87: Pescia G, Jotterand-Bellomo M, Vecerina S, Lanao C. [Achalasia with dolichomegaesophagus associated with perceptual deafness of perception and familial 4:9 balanced translocation Rev Med Suisse Romande. 1981 Apr;101(4):263-8.]

88: Pescia G, Juillard E. [Genetic counseling] Rev Med Suisse Romande. 1981 Apr;101(4):273-84.

89: Pescia G, Nguyen-The H. [Genetic counseling and prenatal diagnosis in multiple pregnancies] J Genet Hum. 1981 Mar;29(1):115.

90: Pescia G, Jotterand-Bellomo M, Flury R. Extra microchromosome mosaicism in amniotic cells confirmed in fetal tissues. J Genet Hum. 1981 Feb;28(5):175-83.

91: Pescia G, Jotterand-Bellomo M, Nguyen TH, Scholberg-Hermann B. [Telomeric fusion of the short arms of both X chromosomes in a patient presenting an atypical Turner syndrome] J Genet Hum. 1980 Dec;28:131-40..

92: Pescia G, Nguyen The H, Vajda D, Tolck P, Cruz J, Jotterand-Bellomo M [Prenatal diagnosis of genetic illnesses. 500 cases] Rev Med Suisse Romande. 1979 Sep;99(9):637-42.

93: Lambercy JM, Pescia G, Weihs D, Ditesheim PJ. [Alpha fetoprotein and prenatal detection of malformations of the neural tube] Rev Med Suisse Romande. 1979 Sep;99(9):643-9.

94: Carter CO, Evans K, Pescia G. A family study of renal agenesis. J Med Genet. 1979 Jun;16(3):176-88.

95: Pescia G, Jotterand M, Gaide AC. [Early repeated abortions and karyotypes. A cytogenic study of 80 consecutive couples (author's transl)] J Gynecol Obstet Biol Reprod (Paris). 1979 Jan-Feb;8(1):35-8.

96: Pescia G, Jotterand-Bellomo M, de Crousaz H, Payot M, Martin D [Distal 9q trisomy phenotype in a patient with a supernumerary rearranged chromosome [t(X:9)] (author's transl)] Ann Genet. 1979;22(3):158-62.

97: Pescia G, Favre JL, Schnyder P. [Incidence of occult spina bifida in parents of offspring with neural tube defects (author's transl)] Schweiz Rundsch Med Prax. 1978 Sep 12;67(37):1366-8

98: Fitze F, Spahr A, Pescia G. [Fetal alcohol syndrome: follow-up of a family (author's transl)]
Schweiz Rundsch Med Prax. 1978 Sep 12;67(37):1338-54. Review.

99: Pescia G, Gaide AC, Juillard E. [Dysmorphism syndrome, mental retardation and interstitial deletion of long arms of chromosome 5] Ann Genet. 1978 Sep;21(3):161-3.

100: Mevorah B, Frenk E, Pescia G. Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family. Clin Genet. 1978 Jun;13(6):462-70.

101: Pescia G, Spahr A, Genton N, Juillard E. Prepubertal XX male with profound physical and mental deficiency, retinitis pigmentosa and multiple congenital anomalies. Helv Paediatr Acta. 1978 Apr;33(1):63-72.

102: Besson A, Delacretaz F, Pescia G, Vecerina S, Saegesser F. [Peutz-Jeghers' syndrome, intussusception and associated malignancies (author's transl)] Chirurgie. 1978;104(2):117-30.

103: Pescia G, Juillard E.[Sex chromosome aberrations] Rev Med Suisse Romande. 1978 Jan;98(1):27-37.

104: Pescia G, Bakaric O, Cruz JM. [Prenatal diagnosis of genetic diseases]Rev Med Suisse Romande. 1978 Jan;98(1):17-26. Review.

105: Pescia G, Gaide AC, Juillard E.[Three families with pericentric inversion of chromosome 9]J Genet Hum. 1977 Jun;25(2):121-34.

106: Pescia G, Jotterand M. Possible evidence of X-Y interchange in an XX male. Lancet. 1977 Mar 5;1(8010):550.

107: Pescia G, Emery AE. [The importance of biomicroscopic examination of the lens in the detection of heterozygotes for certain hereditary diseases, in particular, myotonic dystrophy] J Genet Hum. 1976 Sep;24(3):227-34..

108: Ferrier S, Crippa L, Cabrol C, Pescia G. [A case of Turner's syndrome in 45,X/46,XXp- mosaicism associated with colour-blindness (author's transl)] J Genet Hum. 1976 Jun;24(2):95-112.

109: Pescia G, Ferrier PE, Wyss-Hutin D, Klein D. 45,X Turner's syndrome in monozygotic twin sisters.J Med Genet. 1975 Dec;12(4):390-6.

110: Pescia G, Klein D, Wildi E. [2 families of a Valaisan isolate with infantile epileptogenic encephalopathy] Rev Otoneuroophtalmol. 1974 Oct-Dec;46(5):483-9.

111: Ferrier PE, Ferrier SA, Pescia G. The XXXY Klinefelter syndrome in childhood.
Am J Dis Child. 1974 Jan;127(1):104-5.

112: Pescia G, Crippa L, Hyvarinen R, Ferrier PE. ["Supra-Klinefelter" syndrome (48, XXXY) in a prepubescent child: clinical and cytogenetic study (author's transl)] Arch Genet (Zur). 1974;47(1):37-51.

113: Pescia G. [Recessively transmitted early epileptogenic encephalopathy in 2 families in an isolated population of the Valais (anatomo-pathological verification)] J Genet Hum. 1973 Sep;21(3):147-86.

114: Addor MC, Stefanutti D, Farron F, Meinecke P, Lacombe D, Sarlangue J, Pescia G, Schorderet DF. "C" trigonocephaly syndrome with diaphragmnatic hernia.Genet Couns. 1995;6(2):113-20.