M.D. Pierpaolo Mastroiacovo : rechercher sur Z-Library

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1

From cause to care: Triple surveillance for better outcomes in birth defects and rare diseases

Botto, Lorenzo D., Mastroiacovo, Pierpaolo

Journal:

European Journal of Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 378 KB

english, 2018

2

Preconception care policy, guidelines, recommendations and services across six European countries: Belgium (Flanders), Denmark, Italy, the Netherlands, Sweden and the United Kingdom

Shawe, Jill, Delbaere, Ilse, Ekstrand, Maria, Hegaard, Hanne Kristine, Larsson, Margareta, Mastroiacovo, Pierpaolo, Stern, Jenny, Steegers, Eric, Stephenson, Judith, Tydén, Tanja

Journal:

The European Journal of Contraception & Reproductive Health Care

Année:

2015

Langue:

english

Fichier:

PDF, 140 KB

english, 2015

3

Survival of children with Down syndrome in Italy

M.D. Pierpaolo Mastroiacovo, Roberto Bertollini, Carlo Corchia

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 556 KB

english, 1992

4

Birth prevalence study of the apert syndrome

Dr. M. Michael Cohen Jr., Sven Kreiborg, Edward J. Lammer, José F. Cordero, Pierpaolo Mastroiacovo, J. David Erickson, Peter Roeper, Maria Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 502 KB

english, 1992

5

Ultrasonography in pregnancy and fetal abnormalities: Screening or diagnostic test? IPIMC 1986–1990 register data

Dante Baronciani, Chiara Scaglia, Carlo Corchia, Francesco Torcetta, Pierpaolo Mastroiacovo

Journal:

Prenatal Diagnosis

Année:

1995

Langue:

english

Fichier:

PDF, 594 KB

english, 1995

6

Parental fertility and infant hypospadias: An international case-control study

Dr. Bengt Källén, Eduardo E. Castilla, Mette Kringelbach, Paul A. L. Lancaster, Maria Luisa Martínez-Frías, Pierpaolo Mastroiacovo, Osvaldo Mutchinick, Elisabeth Robert

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

1991

Langue:

english

Fichier:

PDF, 483 KB

english, 1991

7

The outcome of pregnancy in 689 women exposed to therapeutic doses of antidepressants. A collaborative study of the European Network of Teratology Information Services (ENTIS)

Patricia R. McElhatton, Hanneke M. Garbis, Elisabeth Eléfant, Thierry Vial, Béatrice Bellemin, Pierpaolo Mastroiacovo, Judith Arnon, Elvira Rodríguez-Pinilla, Christof Schaefer, Tomas Pexieder, Paul M

Journal:

Reproductive Toxicology

Année:

1996

Langue:

english

Fichier:

PDF, 1.03 MB

english, 1996

8

Chorionic villus sampling and transverse digital deficiencies: Evidence for anatomic and gestational-age specificity of the digital deficiencies in two studies

Botto, Lorenzo D., Olney, Richard S., Mastroiacovo, Pierpaolo, Khoury, Muin J., Moore, Cynthia A., Alo, Celan J., Costa, Pamela, Edmonds, Larry D., Flood, Timothy J., Harris, John A., Howe, Holly L.,

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 624 KB

english, 1996

9

Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss

Zampino, Giuseppe, Conti, Guido, Balducci, Francesca, Moschini, Massimo, Macchiaiolo, Marina, Mastroiacovo, Pierpaolo

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 926 KB

english, 1996

10

Major congenital malformations in Down syndrome

Källén, Bengt, Mastroiacovo, Pierpaolo, Robert, Elisabeth

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 674 KB

english, 1996

11

The spectrum of congenital anomalies of the VATER association: An international study

Botto, Lorenzo D., Khoury, Muin J., Mastroiacovo, Pierpaolo, Castilla, Eduardo E., Moore, Cynthia A., Skjaerven, Rolv, Mutchinick, Osvaldo M., Borman, Barry, Cocchi, Guido, Czeizel, Andrew E., Goujard

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 183 KB

english, 1997

12

Opitz C trigonocephaly syndrome and midline brain anomalies

Zampino, Giuseppe, Di Rocco, Concezio, Butera, Gianfranco, Balducci, Francesca, Colosimo, Cesare, Torrioli, Maria Giulia, Mastroiacovo, Pierpaolo

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 363 KB

english, 1997

13

(Mis)classifying limb deficiencies: A reply to ?Academicians are more likely to share each other's toothbrush than each other's nomenclature (Cohen, 1982)?

Botto, Lorenzo D., Olney, Richard S., Moore, Cynthia A., Khoury, Muin J., Mastroiacovo, Pierpaolo

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 15 KB

english, 1998

14

Is there an association of Down syndrome and omphalocele?

Mastroiacovo, Pierpaolo, Robert, Elisabeth, K�ll�n, Bengt

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 32 KB

english, 1999

15

Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: Confirmation of the ROCA-Wiedemann syndrome

Zampino, Giuseppe, Balducci, Francesca, Mariotti, Paolo, Dickmann, Anna, Mastroiacovo, Pierpaolo

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 224 KB

english, 2000

16

OEIS complex ? a population study

K�ll�n, Karin, Castilla, Eduardo E., Robert, Elisabeth, Mastroiacovo, Pierpaolo, K�ll�n, Bengt

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 151 KB

english, 2000

17

CHARGE association in newborns: A registry-based study

K�ll�n, Karin, Robert, Elisabeth, Mastroiacovo, Pierpaolo, Castilla, Eduardo E., K�ll�n, Bengt

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 121 KB

english, 1999

18

More on data from Teratogen Information Systems (TIS)

Ornoy, Asher, Mastroiacovo, Pierpaolo

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 33 KB

english, 2000

19

Genotype–phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

Marcella Zollino, Cristina Di Stefano, Giuseppe Zampino, Pierpaolo Mastroiacovo, Tracy J. Wright, Giovanni Sorge, Angelo Selicorni, Romano Tenconi, Alessandro Zappalà, Agatino Battaglia, Maja Di Rocco

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 428 KB

english, 2000

20

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

Gianni Camera, Maurizia Baldi, Giuseppe Strisciuglio, Daniela Concolino, Pierpaolo Mastroiacovo, Maria Baffico

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 260 KB

english, 2001

21

VATER non-random association of congenital malformations: Study based on data from four malformation registers

Karin Källén, Pierpaolo Mastroiacovo, Eduardo E. Castilla, Elisabeth Robert, Bengt Källén

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 131 KB

english, 2001

22

Fibrochondrogenesis: Radiologic and histologic studies

Donna Jane Eteson, Gerald E. Adomian, Asher Ornoy, Toshio Koide, Yasuo Sugiura, Anna Calabro, Serena Lungarotti, Pierpaolo Mastroiacovo, Ralph S. Lachman, Dr. David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Année:

1984

Langue:

english

Fichier:

PDF, 1.24 MB

english, 1984

23

Limb anomalies following chorionic villus sampling: A registry based case-control study

Pierpaolo Mastroiacovo, Lorenzo Davide Botto, Denise Pontes Cavalcanti, Faustina Lalatta, Angelo Selicorni, Alberto Eugenio Tozzi, Dante Baronciani, Anna Chiara Cigolotti, Sergio Giordano, Fabio Petro

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 681 KB

english, 1992

24

Monitoring for new multiple congenital anomalies in the search for human teratogens

Muin J. Khoury, Lorenzo Botto, Grady D. Waters, Pierpaolo Mastroiacovo, Eduardo Castilla, J. David Erickson

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 667 KB

english, 1993

25

Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology

Giuseppe Zampino, Pierpaolo Mastroiacovo, Roberta Ricci, Marcella Zollino, Giuseppe Segni, Maria Enrica Martini-Neri, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 860 KB

english, 1993

26

Chorionic villus sampling and transverse limb deficiencies: Maternal age is not a confounder

Pierpaolo Mastroiacovo, Lorenzo D. Botto

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 427 KB

english, 1994

27

Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

Prof. Iêda M. Orioli, Eduardo E. Castilla, Gioacchino Scarano, Pierpaolo Mastroiacovo

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 782 KB

english, 1995

28

Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)

Karin Källén, Elisabeth Robert, Eduardo E. Castilla, Pierpaolo Mastroiacovo, Bengt Källén

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 200 KB

english, 2004

29

Outcome in Down syndrome fetuses with cardiac anomalies

Bruno Marino, Luca Diociaiuti, Giulio Calcagni, Pierpaolo Mastroiacovo

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 37 KB

english, 2004

30

Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”?

Hester Y. Kroes, Richard S. Olney, Aldo Rosano, Yecai Liu, Eduardo E. Castilla, Guido Cocchi, Catherine De Vigan, María L. Martínez-Frías, Pierpaolo Mastroiacovo, Paul Merlob, Osvaldo Mutchinick, Annu

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 85 KB

english, 2004

31

Gastroschisis and associated defects: An international study

Pierpaolo Mastroiacovo, Alessandra Lisi, Eduardo E. Castilla, María-Luisa Martínez-Frías, Eva Bermejo, Lisa Marengo, Jim Kucik, Csaba Siffel, Jane Halliday, Miriam Gatt, Göran Annerèn, Fabrizio Bianch

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 224 KB

english, 2007

32

Response to “Folate Gene Polymorphisms and the Risk of Down Syndrome Pregnancies in Young Italian Women” by Coppedè et al. [2006]

Iris Scala, Barbara Granese, Alessandra Lisi, Pierpaolo Mastroiacovo, Generoso Andria

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 69 KB

english, 2007

33

Sirenomelia and cyclopia cluster in Cali, Colombia

Eduardo E. Castilla, Pierpaolo Mastroiacovo, Jorge S. López-Camelo, Wilmar Saldarriaga, Carolina Isaza, Iêda M. Orioli

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 186 KB

english, 2008

34

Gastroschisis: International epidemiology and public health perspectives

Eduardo E. Castilla, Pierpaolo Mastroiacovo, Iêda M. Orioli

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 199 KB

english, 2008

35

Very rare defects: What can we learn?

Eduardo E. Castilla, Pierpaolo Mastroiacovo

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 146 KB

english, 2011

36

First trimester exposure to corticosteroids and oral clefts

Pierre Pradat, Elisabeth Robert-Gnansia, Gian Luca Di Tanna, Aldo Rosano, Alessandra Lisi, Pierpaolo Mastroiacovo

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2003

Langue:

english

Fichier:

PDF, 68 KB

english, 2003

37

Clusters of sirenomelia in South America

Iêda M. Orioli, Pierpaolo Mastroiacovo, Jorge S. López-Camelo, Wilmar Saldarriaga, Carolina Isaza, Horacio Aiello, Ignacio Zarante, Eduardo E. Castilla

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2009

Langue:

english

Fichier:

PDF, 134 KB

english, 2009

38

International trends of Down syndrome 1993–2004: Births in relation to maternal age and terminations of pregnancies

Guido Cocchi, Silvia Gualdi, Caroline Bower, Jane Halliday, Björn Jonsson, Åsa Myrelid, Pierpaolo Mastroiacovo, Emmanuelle Amar, Marian K. Bakker, Andrea Correa, Berenice Doray, Kari Klungsør Melve, B

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2010

Langue:

english

Fichier:

PDF, 576 KB

english, 2010

39

Microtia-anotia: A global review of prevalence rates

Daniela Varela Luquetti, Emanuele Leoncini, Pierpaolo Mastroiacovo

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2011

Langue:

english

Fichier:

PDF, 356 KB

english, 2011

40

Transverse limb reduction defects after chorion villus sampling: A retrospective Cohort study

Professor Pierpaolo Mastroiacovo, Alberto Eugenio Tozzi, Silvano Agosti, Giancarlo Bocchino, Luciano Bovicelli, Leda Dalprà, Laura Doria Laba Carbone, Mario Lituania, Angelica Luttichau, Franco Manteg

Journal:

Prenatal Diagnosis

Année:

1993

Langue:

english

Fichier:

PDF, 380 KB

english, 1993

41

Social and geographical inequalities in prenatal care in Italy

Carlo Corchia, Pierpaolo Mastroiacovo, Roberta Lanni, Valentina Grimaldi, Gioacchino Scarano, Dante Baronciani

Journal:

Prenatal Diagnosis

Année:

1995

Langue:

english

Fichier:

PDF, 506 KB

english, 1995

42

Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p

Bruno Dallapiccola, Pierpaolo Mastroiacovo, Enrico Gandini

Journal:

Année:

1976

Langue:

english

Fichier:

PDF, 323 KB

english, 1976

43

Exploring gene—gene interactions in the etiology of neural tube defects

Lorenzo D. Botto, Pierpaolo Mastroiacovo

Journal:

Clinical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 312 KB

english, 1998

44

Cisapride Use During Human Pregnancy (A Prospective, Controlled Multicenter Study)

Benoit Bailey, Antonio Addis, Amy Lee, Kinjal Sanghvi, Pierpaolo Mastroiacovo, Teresa Mazzone, Maurizo Bonati, Cinzia Paolini, Hanneke Garbis, Thierry Val, Carolina F. M. De Souza, Doren Matsui, Amy S

Journal:

Digestive Diseases and Sciences

Année:

1997

Langue:

english

Fichier:

PDF, 98 KB

english, 1997

45

Congenital malformations in twins: An international study

Pierpaolo Mastroiacovo, Eduardo E. Castilla, Carla Arpino, Beverley Botting, Guido Cocchi, Janine Goujard, Chiara Marinacci, Paul Merlob, Julia Métneki, Osvaldo Mutchinick, Annukka Ritvanen, Aldo Rosa

Journal:

American Journal of Medical Genetics Part A

Année:

1999

Langue:

english

Fichier:

PDF, 79 KB

english, 1999

46

More folic acid, the five questions: Why, who, when, how much, and how

Pierpaolo Mastroiacovo, Emanuele Leoncini

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 264 KB

english, 2011

47

Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions

Pierpaolo Mastroiacovo, Bengt Källén, Lisbeth B. Knudsen, Paul A. L. Lancaster, Eduardo E. Castilla, Osvaldo Mutchinick, Elisabeth Robert

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

1992

Langue:

english

Fichier:

PDF, 790 KB

english, 1992

48

International study of sex ratio and twinning of neural tube defects

Bengt Källén, Guido Cocchi, Lisbeth B. Knudsen, Dr. Eduardo E. Castilla, Elisabeth Robert, Anne Kjersti Daltveit, Paul L. Lancaster, Pierpaolo Mastroiacovo

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

1994

Langue:

english

Fichier:

PDF, 934 KB

english, 1994

49

An international collaborative study of the epidemiology of esophageal atresia or stenosis

Elisabeth Robert, Osvaldo Mutchinick, Pierpaolo Mastroiacovo, Lisbeth B. Knudsen, Anne Kjersti Daltveit, Eduardo E. Castilla, Paul Lancaster, Bengt Källen, Guido Cocchi

Journal:

Reproductive Toxicology

Année:

1993

Langue:

english

Fichier:

PDF, 1.50 MB

english, 1993

50

Pregnancy outcome after exposure to ranitidine and other H2-blockers: A collaborative study of the European Network of Teratology Information Services

Hanneke Garbis, Elisabeth Elefant, Orna Diav-Citrin, Pierpaolo Mastroiacovo, Christof Schaefer, Thierry Vial, Maurizio Clementi, Electra Valti, Patricia McElhatton, Carlo Smorlesi, Elvira Pinilla Rodr

Journal:

Reproductive Toxicology

Année:

2005

Langue:

english

Fichier:

PDF, 78 KB

english, 2005