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1

Mosaic trisomy 20: Considerations for genetic counseling

Sebastiano Bianca, Gustavo Boemi, Barbara Barrano, Antonella Cataliotti, Carmela Ingegnosi, Lara Indaco, Giuseppe Ettore

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 34 KB

english, 2008

2

Poland syndrome with bilateral features: Case description with review of the literature

Anwar Baban, Michele Torre, Sebastiano Bianca, Anna Buluggiu, Mario Igor Rossello, Maria Grazia Calevo, Maura Valle, Roberto Ravazzolo, Vincenzo Jasonni, Margherita Lerone

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 194 KB

english, 2009

3

How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research

Emanuele Leoncini, Lorenzo D. Botto, Guido Cocchi, Goran Annerén, Carol Bower, Jane Halliday, Emmanuelle Amar, Marian K. Bakker, Sebastiano Bianca, Maria Aurora Canessa Tapia, Eduardo E. Castilla, Mel

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 199 KB

english, 2010

4

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Baldelli, Ilaria, Baccarani, Alessio, Barone, Chiara, Bedeschi, Francesca, Bianca, Sebastiano, Calabrese, Olga, Castori, Marco, Catena, Nunzio, Corain, Massimo, Costanzo, Sara, Barbato, Giacomo De Pao

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 4.36 MB

2020

5

Multiple aneuploidy recurrence risk

Sebastiano Bianca, Carmela Ingegnosi, Antonella Cataliotti, Giuseppe Ettore

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 61 KB

english, 2006

6

Isolated congenital amastia: A subclavian artery supply disruption sequence?

Sebastiano Bianca, Maria Licciardello, Barbara Barrano, Giuseppe Ettore

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 68 KB

english, 2010

7

Familial Poland anomaly revisited

Anwar Baban, Michele Torre, Sara Costanzo, Stefania Gimelli, Sebastiano Bianca, Maria Teresa Divizia, Filippo Maria Sénès, Livia Garavelli, Francesca Rivieri, Margherita Lerone, Maura Valle, Roberto R

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 166 KB

english, 2012

8

Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

Csaba Siffel, Adolfo Correa, Emmanuelle Amar, Marian K. Bakker, Eva Bermejo-Sánchez, Sebastiano Bianca, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Melinda Csáky-Szunyogh, Marcia L. Feldkamp

Journal:

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

Année:

2011

Langue:

english

Fichier:

PDF, 223 KB

english, 2011

9

Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research

Marcia L. Feldkamp, Lorenzo D. Botto, Emmanuelle Amar, Marian K. Bakker, Eva Bermejo-Sánchez, Sebastiano Bianca, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Melinda Csaky-Szunyogh, Emanu

Journal:

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

Année:

2011

Langue:

english

Fichier:

PDF, 331 KB

english, 2011

10

Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

Eva Bermejo-Sánchez, Lourdes Cuevas, Emmanuelle Amar, Marian K. Bakker, Sebastiano Bianca, Fabrizio Bianchi, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Marcia L. Feldkamp,

Journal:

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

Année:

2011

Langue:

english

Fichier:

PDF, 275 KB

english, 2011

11

Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

Iêda M. Orioli, Emmanuelle Amar, Jazmin Arteaga-Vazquez, Marian K. Bakker, Sebastiano Bianca, Lorenzo D. Botto, Maurizio Clementi, Adolfo Correa, Melinda Csaky-Szunyogh, Emanuele Leoncini, Zhu Li, Jor

Journal:

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

Année:

2011

Langue:

english

Fichier:

PDF, 242 KB

english, 2011

12

Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

Eva Bermejo-Sánchez, Lourdes Cuevas, Emmanuelle Amar, Sebastiano Bianca, Fabrizio Bianchi, Lorenzo D. Botto, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Danielle Landau, Em

Journal:

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

Année:

2011

Langue:

english

Fichier:

PDF, 278 KB

english, 2011

13

Male periconceptional ribavirin-interferon alpha-2B exposure with no adverse fetal effects

Sebastiano Bianca, Giuseppe Ettore

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2003

Langue:

english

Fichier:

PDF, 52 KB

english, 2003

14

Prenatal diagnosis of 45,X/46,XY mosaicism with cleft lip and epispadias

Chiara Barone, Giovanni Bartoloni, Antonella Cataliotti, Lara Indaco, Elisa Pappalardo, Barbara Barrano, Giuseppe Ettore, Sebastiano Bianca

Journal:

Archives of Gynecology and Obstetrics

Année:

2011

Langue:

english

Fichier:

PDF, 218 KB

english, 2011

15

Occurrence of fetal choroid plexus cysts in siblings

Sebastiano Bianca, Carmela Ingegnosi, Benedetto Ciancio, Antonella Cataliotti, Giuseppe Ettore

Journal:

Journal of Obstetrics and Gynaecology Research

Année:

2006

Langue:

english

Fichier:

PDF, 37 KB

english, 2006

16

Hepatitis C and pregnancy

Sebastiano BIANCA

Journal:

Australian and New Zealand Journal of Obstetrics and Gynaecology

Année:

2004

Langue:

english

Fichier:

PDF, 50 KB

english, 2004

17

Reproductive risk factors in unilateral and bilateral renal agenesis

Sebastiano Bianca, Carmela Ingegnosi, Giuseppe Ettore

Journal:

Congenital Anomalies

Année:

2003

Langue:

english

Fichier:

PDF, 161 KB

english, 2003

18

Fetal upper limb amelia with increased nuchal translucency

Sebastiano Bianca, Giovanni Bartoloni, Claudio Libertini, Gustavo Boemi, Barbara Barrano, Antonella Cataliotti, Chiara Barone, Lara Indaco, Antonino Vallone, Giuseppe Ettore

Journal:

Congenital Anomalies

Année:

2009

Langue:

english

Fichier:

PDF, 132 KB

english, 2009

19

Fetal Eagle–Barrett syndrome and pulmonary atresia with intact ventricular septum

Sebastiano Bianca, Giovanni Bartoloni, Gustavo Boemi, Barbara Barrano, Antonella Cataliotti, Chiara Barone, Lara Indaco, Claudio Campione, Giuseppe Ettore

Journal:

Congenital Anomalies

Année:

2010

Langue:

english

Fichier:

PDF, 82 KB

english, 2010

20

Congenital perineal hernia in a fetus with X monosomy

Sebastiano Bianca, Giovanni Bartoloni, Barbara Barrano, Gustavo Boemi, Chiara Barone, Antonella Cataliotti, Lara Indaco, Giuseppe Ettore

Journal:

Congenital Anomalies

Année:

2009

Langue:

english

Fichier:

PDF, 68 KB

english, 2009

21

Familial nuchal cystic hygroma without fetal effects: Genetic counselling and further evidence for an autosomal recessive subtype

Sebastiano Bianca, Giovanni Bartoloni, Gustavo Boemi, Barbara Barrano, Chiara Barone, Antonella Cataliotti, Lara Indaco, Giuseppe Ettore

Journal:

Congenital Anomalies

Année:

2010

Langue:

english

Fichier:

PDF, 90 KB

english, 2010

22

Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family

Salvatore Volti, Teresio Avitabile, Giovanni Volti, Ilaria Meloni, Paola Forabosco, Filippo Marano, Sebastiano Bianca, Alessandra Renieri

Journal:

Graefe's Archive for Clinical and Experimental Ophthalmology

Année:

2002

Langue:

english

Fichier:

PDF, 98 KB

english, 2002

23

Down Syndrome

Sebastiano Bianca, M. Bianca

Journal:

Archives of Medical Research

Année:

2005

Langue:

english

Fichier:

PDF, 48 KB

english, 2005

24

Dextrocardia in patients with Poland syndrome: Phenotypic characterization provides insight into the pathogenesis

Michele Torre, Anwar Baban, Anna Buluggiu, Sara Costanzo, Lara Bricco, Margherita Lerone, Sebastiano Bianca, Gian Luca Gatti, Filippo Maria Sénès, Maura Valle, Maria Grazia Calevo

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Année:

2010

Langue:

english

Fichier:

PDF, 293 KB

english, 2010

25

Erratum to “Preventing neural tube defects in Europe: A missed opportunity” [Reprod. Toxicol. 20 (2005) 393–402]

Araceli Busby, Lenore Abramsky, Helen Dolk, Ben Armstrong, Marie-Claude Addor, Goran Anneren, Nicola Armstrong, Andre Baguette, Ingeborg Barisic, Andrea Berghold, Sebastiano Bianca, Paula Braz, Elisa

Journal:

Reproductive Toxicology

Année:

2006

Langue:

english

Fichier:

PDF, 54 KB

english, 2006

26

Pityriasis rosea in pregnancy

Sebastiano Bianca, Carmela Ingegnosi, Benedetto Ciancio, Gaspare Gullotta, Lucia Randazzo, Giuseppe Ettore

Journal:

Reproductive Toxicology

Année:

2007

Langue:

english

Fichier:

PDF, 84 KB

english, 2007

27

Surveillance of adverse fetal effects of medications (SAFE-Med): Findings from the International Clearinghouse of Birth Defects Surveillance and Research

Alessandra Lisi, Lorenzo D. Botto, Elisabeth Robert-Gnansia, Eduardo E. Castilla, Marian K. Bakker, Sebastiano Bianca, Guido Cocchi, Caterine de Vigan, Maria da Graça Dutra, Jiri Horacek, Paul Merlob,

Journal:

Reproductive Toxicology

Année:

2010

Langue:

english

Fichier:

PDF, 217 KB

english, 2010

28

Syndrome of renal, genital and feet malformations

Sebastiano Bianca, Manuela Caruso-Nicoletti, Giovanni Li Volti, Michele Mancuso, Salvatore Li Volti

Journal:

Annales de Génétique

Année:

2001

Langue:

english

Fichier:

PDF, 88 KB

english, 2001

29

Hyperphenylalaninemia and birth weight

Sebastiano Bianca, Concetta Meli, Barbara Barrano, Florindo Mollica

Journal:

Annales de Génétique

Année:

2002

Langue:

english

Fichier:

PDF, 92 KB

english, 2002

30

Gerstmann–Sträussler–Scheinker disease with P102L–V129 mutation: a case with psychiatric manifestations at onset

Marco Bianca, Sebastiano Bianca, Ignazio Vecchio, Rocco Raffaele, Carmela Ingegnosi, Francesco Nicoletti

Journal:

Annales de Génétique

Année:

2003

Langue:

english

Fichier:

PDF, 111 KB

english, 2003

31

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

Année:

2002

Langue:

english

Fichier:

PDF, 105 KB

english, 2002

32

Elevated incidence of hypospadias in two sicilian towns where exposure to industrial and agricultural pollutants is high

Sebastiano Bianca, Giovanni Li Volti, Manuela Caruso-Nicoletti, Giuseppe Ettore, Patrizia Barone, Lorenzo Lupo, Salvatore Li Volti

Journal:

Reproductive Toxicology

Année:

2003

Langue:

english

Fichier:

PDF, 82 KB

english, 2003

33

Prenatal diagnosis of a fetus with anencephaly and thumb agenesis

Chiara Barone, Giovanni Bartoloni, Antonella Cataliotti, Lara Indaco, Elisa Pappalardo, Barbara Barrano, Giuseppe Ettore, Sebastiano Bianca

Journal:

Congenital Anomalies

Année:

2012

Langue:

english

Fichier:

PDF, 225 KB

english, 2012

34

Congenital Cataract and Heart Septal Defects: Are Contiguous or Reciprocally Influenced Genes Involved?

Sebastiano Bianca, Barbara Barrano, Chiara Barone, Antonella Cataliotti, Lara Indaco, Gustavo Boemi, Giovanni Bartoloni, Giuseppe Ettore

Journal:

Congenital Heart Disease

Année:

2009

Langue:

english

Fichier:

PDF, 43 KB

english, 2009

35

Craniorachischisis and Heterotaxia with Heart Disease in Twins: Link or Change Nature?

Sebastiano Bianca, Giovanni Bartoloni, Chiara Barone, Barbara Barrano, Gustavo Boemi, Vincenzo De Filippo, Lara Indaco, Antonella Cataliotti, Giuseppe Ettore

Journal:

Congenital Heart Disease

Année:

2010

Langue:

english

Fichier:

PDF, 917 KB

english, 2010

36

Reproductive risk factors in unilateral and bilateral renal agenesis

Sebastiano Bianca, Carmela Ingegnosi, Giuseppe Ettore

Journal:

Clinical Genetics

Année:

1993

Langue:

english

Fichier:

PDF, 163 KB

english, 1993

37

Pathology of coronary narrowing after arterial switch operation: autopsy findings in two patients who died within 3 months of surgical treatment and review of the literature

Giovanni Bartoloni, Sebastiano Bianca, Leonardo Patanè, Carmelo Mignosa

Journal:

Cardiovascular Pathology

Année:

2006

Langue:

english

Fichier:

PDF, 441 KB

english, 2006

38

Kabuki syndrome and sex chromosomal anomalies: is it really an association?

Sebastiano Bianca, Barbara Barrano, Antonella Cataliotti, Lara Indaco, Carmela Ingegnosi, Giuseppe Ettore

Journal:

Fertility and Sterility

Année:

2009

Langue:

english

Fichier:

PDF, 41 KB

english, 2009

39

No association between apolipoprotein E polymorphisms and recurrent pregnancy loss

Sebastiano Bianca, Barbara Barrano, Nunzio Cutuli, Lara Indaco, Antonella Cataliotti, Gabriella Milana, Chiara Barone, Giuseppe Ettore

Journal:

Fertility and Sterility

Année:

2010

Langue:

english

Fichier:

PDF, 48 KB

english, 2010

40

Reply of the Authors: Association of apolipoprotein E polymorphisms and recurrent pregnancy loss & Apolipoprotein E4 allele and recurrent pregnancy loss: Is it time to draw a conclusion?

Sebastiano Bianca, Barbara Barrano, Nunzio Cutuli, Lara Indaco, Antonella Cataliotti, Gabriella Milana, Chiara Barone, Giuseppe Ettore

Journal:

Fertility and Sterility

Année:

2010

Langue:

english

Fichier:

PDF, 40 KB

english, 2010

41

Dietary control of phenylketonuria

Concetta Meli, Sebastiano Bianca

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 59 KB

english, 2002

42

Down's syndrome

Sebastiano Bianca

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 44 KB

english, 2003

43

Drug use during pregnancy: are risk classifications more dangerous than the drugs?

Sebastiano Bianca

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 49 KB

english, 2003

44

Recent Decrease in the Prevalence of Congenital Heart Defects in Europe

Babak Khoshnood, Maria Loane, Ester Garne, Marie-Claude Addor, Larraitz Arriola, Marian Bakker, Ingeborg Barisic, Sebastiano Bianca, Patricia Boyd, Elisa Calzolari, Berenice Doray, Elizabeth Draper, M

Journal:

The Journal of Pediatrics

Année:

2013

Langue:

english

Fichier:

PDF, 222 KB

english, 2013

45

Further Evidence of No Association between Spinal Muscular Atrophy and Increased Nuchal Translucency

Barone, Chiara, Bianca, Sebastiano

Journal:

Fetal Diagnosis and Therapy

Année:

2013

Langue:

english

Fichier:

PDF, 110 KB

english, 2013

46

Carrier screening for spinal muscular atrophy in Italian population

CALÌ, FRANCESCO, RUGGERI, GIUSEPPA, CHIAVETTA, VALERIA, SCUDERI, CARMELA, BIANCA, SEBASTIANO, BARONE, CHIARA, RAGALMUTO, ALDA, SCHINOCCA, PIETRO, VITELLO, GIROLAMO AURELIO, ROMANO, VALENTINO, MUSUMECI

Journal:

Journal of Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 90 KB

english, 2014

47

Fraser Syndrome: Epidemiological Study in a European Population

Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Boyd, Patri

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 123 KB

english, 2013

48

Maternal and Paternal Risk Factors for Hypospadias

Sebastiano Bianca, Carmela Ingegnosi and Giuseppe Ettore

Journal:

Environmental Health Perspectives

Année:

2005

Langue:

english

Fichier:

PDF, 291 KB

english, 2005

49

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Doray, Bere

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 347 KB

english, 2014

50

Congenital talipes equinovarus: an epidemiological study in Sicily

Pavone, Vito, Bianca, Sebastiano, Grosso, Giuseppe, Pavone, Piero, Mistretta, Antonio, Longo, Maria Roberta, Marino, Silvia, Sessa, Giuseppe

Journal:

Acta Orthopaedica

Année:

2012

Langue:

english

Fichier:

PDF, 191 KB

english, 2012