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1

Mutation spectrum ofMLL2in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria N Loviglio, Margherita Cirillo Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester V D’Addetta, Elga Bellign

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 1.61 MB

english, 2011

2

Auriculo-condylar syndrome or new syndrome?

Divizi, M.T., Cordone, A., Bado, M., Rosaia, L., Cirillo Silengo, M., Ravazzolo, R., Lerone, M.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

3

Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter→q2200::q3200→qter)

P. Franceschini, M. Cirillo Silengo, G. F. Davi, M. A. Santoro, G. Prandi, C. Fabris

Journal:

Year:

1978

Language:

english

File:

PDF, 196 KB

english, 1978

4

Remittent hyperammonemia in congenital portosystemic shunt

Giovanni Battista Ferrero, Francesco Porta, Elisa Biamino, Alessandro Mussa, Emanuela Garelli, Francesca Chiappe, Andrea Veltri, Margherita Cirillo Silengo, Fabrizio Gennari

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 117 KB

english, 2010

5

Recessive spondylocostal dysostosis: Two new cases

Margherita Cirillo Silengo, Sebastiano Cavallaro, Piergiorgio Franceschini

Journal:

Clinical Genetics

Year:

1978

Language:

english

File:

PDF, 408 KB

english, 1978

6

The Coffin-Siris syndrome in two siblings

P. Franceschini, M. Cirillo Silengo, R. Bianco, M. Biagioli, A. Guala, G. Lopez Bell

Journal:

Pediatric Radiology

Year:

1986

Language:

english

File:

PDF, 1.60 MB

english, 1986

7

Clinical and genetic aspects of Conradi-Hünermann disease: A report of three familial cases and review of the literature

Margherita Cirillo Silengo, Luigi Luzzatti, Frederic N. Silverman

Journal:

The Journal of Pediatrics

Year:

1980

Language:

english

File:

PDF, 4.60 MB

english, 1980

8

α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes

Mussa, Alessandro, Pagliardini, Severo, Pagliardini, Veronica, Molinatto, Cristina, Baldassarre, Giuseppina, Corrias, Andrea, Silengo, Margherita Cirillo, Ferrero, Giovanni Battista

Journal:

Pediatric Research

Year:

2014

Language:

english

File:

PDF, 700 KB

english, 2014

9

How wide is the ocular spectrum of Delleman syndrome?

Divizia, Maria Teresa, Priolo, Manuela, Priolo, Enrico, Ottonello, Giancarlo, Baban, Anwar, Rossi, Andrea, Silengo, Margherita Cirillo, Lerone, Margherita

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 111 KB

english, 2004

10

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome

Paolo Prontera, Emanuela Garelli, Ilenia Isidori, Amedea Mencarelli, Adriana Carando, Margherita Cirillo Silengo, Emilio Donti

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 152 KB

english, 2011

11

Trisomy-8 mosaicism: Report of a case

Margherita Cirillo Silengo, Gianfranco Davi, Giorgio Crua, Piergiorgio Franceschini

Journal:

Year:

1978

Language:

english

File:

PDF, 186 KB

english, 1978

12

Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome

Margherita Cirillo Silengo, Generoso Andria

Journal:

Year:

1976

Language:

english

File:

PDF, 197 KB

english, 1976

13

Distinctive skeletal dysplasia in Cockayne syndrome

M. Cirillo Silengo, P. Franceschini, R. Bianco, M. Biagioli, L. Pastorin, N. Vista, A. Baldassar, L. Benso

Journal:

Pediatric Radiology

Year:

1986

Language:

english

File:

PDF, 1.24 MB

english, 1986

14

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Sparago, Angela, Cerrato, Flavia, Vernucci, Maria, Ferrero, Giovanni Battista, Silengo, Margherita Cirillo, Riccio, Andrea

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 377 KB

english, 2004

15

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of theCREBBPdeletion repertoire

Rusconi, Daniela, Negri, Gloria, Colapietro, Patrizia, Picinelli, Chiara, Milani, Donatella, Spena, Silvia, Magnani, Cinzia, Silengo, Margherita Cirillo, Sorasio, Lorena, Curtisova, Vaclava, Cavaliere

Journal:

Year:

2015

Language:

english

File:

PDF, 904 KB

english, 2015

16

First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

Nicolaas G.J. Jaspers, Anja Raams, Margherita Cirillo Silengo, Nils Wijgers, Laura J. Niedernhofer, Andria Rasile Robinson, Giuseppina Giglia-Mari, Deborah Hoogstraten, Wim J. Kleijer, Jan H.J. Hoeijm

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.32 MB

english, 2007

17

Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome

M. Cirillo Silengo, G. F. Davi, R. Bianco, M. Costa, A. DeMarco, R. Ve, P. Franceschini

Journal:

Clinical Genetics

Year:

1982

Language:

english

File:

PDF, 423 KB

english, 1982

18

Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies

P. Franceschini, M. Cirillo Silengo, G. Davi, R. Bianco, M. Biagioli

Journal:

Year:

1983

Language:

english

File:

PDF, 195 KB

english, 1983

19

A heritable cause of cleft lip and palate—Van der Woude syndrome caused by a novelIRF6mutation. Review of the literature and of the differential diagnosis

Giovanni Battista Ferrero, Giuseppina Baldassarre, Emanuele Panza, Mariella Valenzise, Tommaso Pippucci, Alessandro Mussa, Ernesto Pepe, Marco Seri, Margherita Cirillo Silengo

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 190 KB

english, 2010

20

Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features

Alessandro Mussa, Giuseppina Baldassarre, Lucia Rosaia De Santis, Roberto Gastaldi, Andrea Corrias, Margherita Cirillo Silengo

Journal:

Acta Paediatrica

Year:

2008

Language:

english

File:

PDF, 202 KB

english, 2008

21

Ectodermal abnormalities in Kabuki syndrome

Lerone, Margherita, Priolo, Manuela, Naselli, Arturo, Vignolo, Marina, Romeo, Giovanni, Silengo, Margherita Cirillo

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 114 KB

english, 1997

22

Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation

P. Franceschini, M. Cirillo Silengo, G. Davi, R. Bianco, M. Biagioli

Journal:

Year:

1983

Language:

english

File:

PDF, 279 KB

english, 1983

23

Interstitial deletion of the long arm of chromosome no. 5 in two unrelated children with congenital anomalies and mental retardation

Margherita Cirillo Silengo, Luigi Luzzatti, Willard R. Centerwall, Jack M. Costello, Malcolm Parslow

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 532 KB

english, 1981

24

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

Chiesa, N., De Crescenzo, A., Mishra, K., Perone, L., Carella, M., Palumbo, O., Mussa, A., Sparago, A., Cerrato, F., Russo, S., Lapi, E., Cubellis, M. V., Kanduri, C., Cirillo Silengo, M., Riccio, A.,

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 899 KB

english, 2012

25

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

Elga F Belligni, Elisa Biamino, Cristina Molinatto, Jole Messa, Mauro Pierluigi, Francesca Faravelli, Orsetta Zuffardi, Giovanni B Ferrero, Margherita Cirillo Silengo

Journal:

Italian Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 2.41 MB

english, 2009

26

Interstitial deletion of the short arm of chromosome 7 without craniosynostosis

Diana W. Bianchi, Margherita Cirillo-Silengo, Luigi Luzzatti, Robert M. Greenstein

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 435 KB

english, 1981

27

Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity

M. Cirillo Silengo, G. Lopez Bell, M. Biagioli, A. Guala, R. Bianco, P. Strandoni, P. N. De Sario, P. Franceschini

Journal:

Clinical Genetics

Year:

1986

Language:

english

File:

PDF, 258 KB

english, 1986

28

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism

Elga Fabia Belligni, Eleonora Di Gregorio, Elisa Biamino, Alessandro Calcia, Cristina Molinatto, Flavia Talarico, Giovanni Battista Ferrero, Alfredo Brusco, Margherita Cirillo Silengo

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 374 KB

english, 2012

29

Prevalence of beckwith-wiedemann syndrome in North West of Italy

Mussa, Alessandro, Russo, Silvia, De Crescenzo, Agostina, Chiesa, Nicoletta, Molinatto, Cristina, Selicorni, Angelo, Richiardi, Lorenzo, Larizza, Lidia, Silengo, Margherita Cirillo, Riccio, Andrea, Fe

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 257 KB

english, 2013

30

Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

G. Martucciello, M. P. Bicocchi, P. Dodero, M. Lerone, M. Silengo Cirillo, A. Puliti, G. Gimelli, G. Romeo, V. Jasonni

Journal:

Pediatric Surgery International

Year:

1992

Language:

english

File:

PDF, 1.15 MB

english, 1992

31

Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients

Giovanni Battista Ferrero, Elisa Biamino, Lorena Sorasio, Elena Banaudi, Licia Peruzzi, Serena Forzano, Ludovica Verdun di Cantogno, Margherita Cirillo Silengo

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 435 KB

english, 2007

32

Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism

Margherita Cirillo Silengo, Graciela Lopez Bell, M. Biagioli, P. Franceschini

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 244 KB

english, 1988

33

AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome

L. Sorasio, G.B. Ferrero, E. Garelli, G. Brunello, C. Martano, A. Carando, E. Belligni, I. Dianzani, M. Cirillo Silengo

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 267 KB

english, 2006

34

In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis

Giovanni Battista Ferrero, Severo Pagliardini, Aleksandar Veljkovic, Francesco Porta, Cristina Bena, Irene Tardivo, Gabriella Restagno, Margherita Cirillo Silengo, Elisabetta Bignamini

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 76 KB

english, 2008

35

THE 49 XXXXX SYNDROME

SILENGO, M. CIRILLO, DAVI, G. F., FRANCESCHINI, P.

Journal:

Acta Paediatrica

Year:

1979

Language:

english

File:

PDF, 979 KB

english, 1979

36

Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism

Maria Teresa Divizia, Anwar Baban, Alice Pessagno, Silvio Boero, Roberto Ravazzolo, Margherita Cirillo Silengo, Margherita Lerone

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 135 KB

english, 2005

37

Extra band in the 9qh+ chromosome in a normal father and in his child with multiple congenital anomalies

M. Cirillo Silengo, G. F. Davi, P. Franceschini

Journal:

Year:

1982

Language:

english

File:

PDF, 125 KB

english, 1982

38

Reply to "Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor"

Cerrato, Flavia, Sparago, Angela, Farina, Lucia, Ferrero, Giovanni Battista, Silengo, Margherita Cirillo, Riccio, Andrea

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 140 KB

english, 2005

39

The overlap between Sotos and Beckwith-Wiedemann syndromes

Alessandro Mussa, Nicoletta Chiesa, Francesco Porta, Giuseppina Baldassarre, Margherita Cirillo Silengo, Giovanni Battista Ferrero

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 59 KB

english, 2010

40

Distinct Methylation Changes at the IGF2-H19 Locus in Congenital Growth Disorders and Cancer

Murrell, Adele, Ito, Yoko, Verde, Gaetano, Huddleston, Joanna, Woodfine, Kathryn, Silengo, Margherita Cirillo, Spreafico, Filippo, Perotti, Daniela, De Crescenzo, Agostina, Sparago, Angela, Cerrato, F

Journal:

Year:

2008

Language:

english

File:

PDF, 278 KB

english, 2008

41

Clinical and molecular characterization of 40 patients with Noonan syndrome

Giovanni Battista Ferrero, Giuseppina Baldassarre, Angelo Giovanni Delmonaco, Elisa Biamino, Elena Banaudi, Claudio Carta, Cesare Rossi, Margherita Cirillo Silengo

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 239 KB

english, 2008

42

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

Mori, Pier Giorgio, Priolo, Manuela, Lerone, Margherita, Pasino, Mirella, Caroli, Francesco, Cusano, Roberto, Seri, Marco, Silengo, Margherita Cirillo

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

43

A new syndrome with ocular, skeletal and renal involvement

M. Cirillo Silengo, G. Lopez Bell, M. Biagioli, A. Guala, G. Porcellini, P. Franceschini

Journal:

Pediatric Radiology

Year:

1987

Language:

english

File:

PDF, 1.39 MB

english, 1987

44

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

Beygo, J., Citro, V., Sparago, A., De Crescenzo, A., Cerrato, F., Heitmann, M., Rademacher, K., Guala, A., Enklaar, T., Anichini, C., Cirillo Silengo, M., Graf, N., Prawitt, D., Cubellis, M. V., Horst

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 467 KB

english, 2013

45

Interstitial deletion of chromosome 1 (q23–25). Report of a case

Margherita Cirillo Silengo, G. F. Davi, R. Bianco, M. Biagioli, A. Guala, P. Franceschini, G. Novelli

Journal:

Clinical Genetics

Year:

1984

Language:

english

File:

PDF, 303 KB

english, 1984

46

Kniest disease with Pierre Robin syndrome and hydrocephalus

M. Cirillo Silengo, G. F. Davi, R. Bianco, A. DeMarco, P. Franceschini

Journal:

Pediatric Radiology

Year:

1983

Language:

english

File:

PDF, 1.68 MB

english, 1983

47

Triphalangeal thumb and brachy-ectrodactyly syndrome : Confirmation of autosomal dominant inheritance

M. Cirillo Silengo, M. Biagioli, G. Lopez Bell, G. Bona, P. Franceschini

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 1.75 MB

english, 1987

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