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1

Is there a relationship between extensive mongolian spots and inborn errors of metabolism?

Silengo, Margherita, Battistoni, Giulia, Spada, Marco

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 101 KB

english, 1999

2

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability

Monica Marini, Roberto Cusano, Pierangela De Biasio, Francesco Caroli, Margherita Lerone, Margherita Silengo, Roberto Ravazzolo, Marco Seri, Gianni Camera

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 125 KB

english, 2003

3

Lower extremity counterpart of the Poland syndrome

M Silengo, M Lerone, M Seri, P Boffi

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 294 KB

english, 1999

4

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

5

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

6

Hemopexin Prevents Endothelial Damage and Liver Congestion in a Mouse Model of Heme Overload

Francesca Vinchi, Stefania Gastaldi, Lorenzo Silengo, Fiorella Altruda, Emanuela Tolosano

Journal:

The American Journal of Pathology

Year:

2008

Language:

english

File:

PDF, 2.04 MB

english, 2008

7

Electrophoretic analysis of neuronal genomic DNA from hypertrophic spinal ganglia during lizard tail regeneration

Borrione, P., Cervella, P., Geuua, S., Giacobini-Robecchi, M.G., Poncino, A., Silengo, L.

Journal:

Neuroscience Letters

Year:

1991

Language:

english

File:

PDF, 373 KB

english, 1991

8

Ubiad1 Is an Antioxidant Enzyme that Regulates eNOS Activity by CoQ10 Synthesis

Mugoni, Vera, Postel, Ruben, Catanzaro, Valeria, De Luca, Elisa, Turco, Emilia, Digilio, Giuseppe, Silengo, Lorenzo, Murphy, Michael P., Medana, Claudio, Stainier, Didier Y.R., Bakkers, Jeroen, Santor

Journal:

Year:

2013

Language:

english

File:

PDF, 1.94 MB

english, 2013

9

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

10

Hemopexin counteracts systolic dysfunction induced by heme-driven oxidative stress

Ingoglia, Giada, Sag, Can Martin, Rex, Nikolai, De Franceschi, Lucia, Vinchi, Francesca, Cimino, James, Petrillo, Sara, Wagner, Stefan, Kreitmeier, Klaus, Silengo, Lorenzo, Altruda, Fiorella, Maier, L

Journal:

Free Radical Biology and Medicine

Year:

2017

Language:

english

File:

PDF, 1.59 MB

english, 2017

11

Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome

Silengo, Margherita, Lerone, Margherita, Seri, Marco, Romeo, Giovanni

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 89 KB

english, 1996

12

Trichorrhexis Nodosa and lip pits in autosomal dominant ectodermal dysplasia—central nervous system malformation syndrome

Silengo, Margherita, Pietragalla, Anna, Jarre, Laura

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 464 KB

english, 1997

13

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

14

Goldenhar anomaly in one of triplets derived from in vitro fertilization

Ferraris, Silvio, Silengo, Margherita, Ponzone, Alberto, Perugini, Laura

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 99 KB

english, 1999

15

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

Bohring, Axel, Silengo, Margherita, Lerone, Margherita, Superneau, Duane W., Spaich, Christiane, Braddock, Stephen R., Poss, Alexis, Opitz, John M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1020 KB

english, 1999

16

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

17

Actin cytoskeleton organization in response to integrin-mediated adhesion

Defilippi, Paola, Olivo, Cristina, Venturino, Mascia, Dolce, Laura, Silengo, Lorenzo, Tarone, Guido

Journal:

Microscopy Research and Technique

Year:

1999

Language:

english

File:

PDF, 280 KB

english, 1999

18

Startle disease in an Italian family by mutation (K276E): The α-subunit of the inhibiting glycine receptor

Marco Seri, Alessandra Bolino, Luis Juan Vicente Galietta, Margherita Lerone, Margherita Silengo, Giovanni Romeo

Journal:

Year:

1997

Language:

english

File:

PDF, 73 KB

english, 1997

19

A novel BRCA1 mutation (1099 delCA stop codon 328) linked to breast and/or ovarian cancer

Gianfranco Voglino, Cinzia Pera, Gianbattista Ferrara, Lorenzo Silengo, Guglielmo Stefanuto, Antonella Marongiu, Luciano Fessia

Journal:

Year:

1999

Language:

english

File:

PDF, 10 KB

english, 1999

20

Fontaine-farriaux craniosynostosis: Second report in the literature

Manuela Priolo, Teresina De Toni, Maria Baffico, Armando Cama, Marco Seri, Roberto Cusano, Laura Costabello, Paola Fondelli, Valeria Capra, Margherita Silengo, Roberto Ravazzolo, Dr. Margherita Lerone

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 198 KB

english, 2001

21

αv Integrin subunit is predominantly located in nervous tissue and skeletal muscle during mouse development

Emilio Hirsch, Donald Gullberg, Fiorella Balzac, Fiorella Altruda, Lorenzo Silengo, Guido Tarone

Journal:

Developmental Dynamics

Year:

1994

Language:

english

File:

PDF, 1.62 MB

english, 1994

22

Oral, facial, digital, vertebral anomalies with psychomotor delay: A mild form of OFD type Gabrielli?

Giovanni Battista Ferrero, Mariella Valenzise, Brunella Franco, Claudio Defilippi, Giuliana Gregato, Giovanni Corsello, Ernesto Pepe, Margherita Silengo

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 196 KB

english, 2002

23

Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: Report of a case with thumb hypoplasia

M. Lerone, M. Soliani, D. Corea, G. Romeo, G. Martucciello, M. C. Silengo

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 347 KB

english, 1992

24

Uncombable hair, retinal pigmentary distrophy, dental anomalies, and brachydactyly: Report of a new patient with additional findings

M. Silengo, M. Lerone, G. Romeo, E. Calcagno, G. Martucciello, V. Jasonni

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 287 KB

english, 1993

25

Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies

Margherita Silengo, Angelo Del Monaco, Alessandra Linari, Roberto Lala

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 126 KB

english, 2001

26

Pachygyria and cerebellar hypoplasia in Goldberg–Shprintzen syndrome

Margherita Silengo, Giovanni Battista Ferrero, Lorella Tornetta, Maria Grazia Cortese, Ferdinando Canavese, Gabriella D'Alonzo, Francesco Papalia

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 80 KB

english, 2003

27

Subcortical band heterotopia with simplified gyral pattern and syndactyly

Federico Sicca, Margherita Silengo, Elena Parrini, Giovanni B. Ferrero, Renzo Guerrini

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 122 KB

english, 2003

28

Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene

Margherita Silengo, Giovanni Battista Ferrero, Nobuaki Wakamatsu

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 26 KB

english, 2004

29

Myhre's syndrome in a girl with normal intelligence

Immacolata Rulli, Giovanni Battista Ferrero, Elga Belligni, Angelo Giovanni Delmonaco, Claudio Defilippi, Margherita Silengo

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 130 KB

english, 2005

30

Truncus arteriosus and isochromosome 8q

Margherita Silengo, Immacolata Rulli, Angelo Giovanni Delmonaco, Giovanni Battista Ferrero, Angela Pucci, Remonda Sanna

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 33 KB

english, 2005

31

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

M. Cecconi, F. Forzano, D. Milani, S. Cavani, C. Baldo, A. Selicorni, C. Pantaleoni, M. Silengo, G.B. Ferrero, G. Scarano, M. Della Monica, R. Fischetto, P. Grammatico, S. Majore, G. Zampino, L. Memo,

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 187 KB

english, 2005

32

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

33

Phenotype resembling Donnai–Barrow syndrome in a patient with 9qter;16qter unbalanced translocation

Giovanni Battista Ferrero, Elga Belligni, Lorena Sorasio, Angelo Giovanni Delmonaco, Roberto Oggero, Francesca Faravelli, Mauro Pierluigi, Margherita Silengo

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 125 KB

english, 2006

34

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

Gen Nishimura, Jin Dai, Ekkehart Lausch, Sheila Unger, André Megarbané, Hiroshi Kitoh, Ok Hwa Kim, Tae-Joon Cho, Francesca Bedeschi, Francesco Benedicenti, Roberto Mendoza-Londono, Margherita Silengo,

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 257 KB

english, 2010

35

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

36

Malformations following methimazole exposure in utero: An open issue

Silvio Ferraris, Mariella Valenzise, Margherita Lerone, Maria Teresa Divizia, Lucia Rosaia, Dario Blaid, Odette Nemelka, Giovanni Battista Ferrero, Margherita Silengo

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2003

Language:

english

File:

PDF, 155 KB

english, 2003

37

Convergence of integrins and EGF receptor signaling via PI3K/Akt/FoxO pathway in early gene Egr-1 expression

Sara Cabodi, Virginia Morello, Alessio Masi, Riccardo Cicchi, Chiara Broggio, Paola DiStefano, Elisa Brunelli, Lorenzo Silengo, Francesco Pavone, Annarosa Arcangeli, Emilia Turco, Guido Tarone, Laura

Journal:

Journal of Cellular Physiology

Year:

2009

Language:

english

File:

PDF, 340 KB

english, 2009

38

Quantification of the expression level of integrin receptor αvβ3 in cell lines and MR imaging with antibody-coated iron oxide particles

Sabrina Benedetto, Roberta Pulito, Simonetta Geninatti Crich, Guido Tarone, Silvio Aime, Lorenzo Silengo, Jörg Hamm

Journal:

Magnetic Resonance in Medicine

Year:

2006

Language:

english

File:

PDF, 378 KB

english, 2006

39

Magnetically enriched bone marrow-derived macrophages loaded in vitro with iron oxide can migrate to inflammation sites in mice

Jörg Hamm, Roberta Pulito, Sabrina Benedetto, Laura Barberis, Emilio Hirsch, Valeria Poli, Lorenzo Silengo

Journal:

NMR in Biomedicine

Year:

2008

Language:

english

File:

PDF, 634 KB

english, 2008

40

Some considerations on the kinetics of hot-pressing alpha-silicon nitride powder

I. Amato, D. Martorana, B. Silengo

Journal:

Materials Science and Engineering

Year:

1977

Language:

english

File:

PDF, 1.30 MB

english, 1977

41

Pfeiffer syndrome type 2 associated with a single amino acid deletion in the PGFR2 gene

Manuela Priolo, Margherita Lerone, Maria Baffico, Maurizia Baldi, Roberto Ravazzolo, Armando Cama, Valeria Capra, Margherita Silengo

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 106 KB

english, 2000

42

Ectodermal dysplasias: not only ‘skin’ deep

M Priolo, M Silengo, M Lerone, R Ravazzolo

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 177 KB

english, 2000

43

Hair as a diagnostic tool in dysmorphology : Section Editor:Albert E Chudley, e-mail: chudley@cc.umanitoba.ca

M Silengo, M Valenzise, L Sorasio, GB Ferrero

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 99 KB

english, 2002

44

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

45

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene

Marco Fichera, Margherita Silengo, Angela Spalletta, Mariangela Lo Giudice, Corrado Romano, Angela Ragusa

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 79 KB

english, 2001

46

Prenatal features of Noonan syndrome: prevalence and prognostic value

G. Baldassarre, A. Mussa, A. Dotta, E. Banaudi, S. Forzano, A. Marinosci, C. Rossi, M. Tartaglia, M. Silengo, G. B. Ferrero

Journal:

Prenatal Diagnosis

Year:

2011

Language:

english

File:

PDF, 73 KB

english, 2011

47

Multiple sutural synostosis and congenital cataracts

M. Lerone, G. Romeo, E. Conrad, S. Silvano, A. Cama, C. M. Silengo

Journal:

Year:

1991

Language:

english

File:

PDF, 343 KB

english, 1991

48

Cloning and expression of a new human polypeptide which regulates protein phosphorylation in Escherichia coli

Aurora Daniele, Fiorella Altruda, Marina Ferrone, Lorenzo Silengo, Laura Chiarantini, Marzia Bianchi, Vilberto Stocchi, Mauro Magnani

Journal:

Molecular and Cellular Biochemistry

Year:

1991

Language:

english

File:

PDF, 566 KB

english, 1991

49

A 46,XY infant with uterus, dysgenetic gonads and multiple anomalies

Margherita Silengo, Robert L. Kaufman, John Kissane

Journal:

Year:

1974

Language:

english

File:

PDF, 885 KB

english, 1974

50

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

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