SILENGO, Margherita: search on Z-Library

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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

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

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

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

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

27

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

28

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

29

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

30

Radiological features in Trisomy 8

Margherita C. Silengo, G. F. Davi, P. Franceschini

Journal:

Pediatric Radiology

Year:

1979

Language:

english

File:

PDF, 1.01 MB

english, 1979

31

Hair anomalies as a sign of mitochondrial disease

Margherita Silengo, Mariella Valenzise, Marco Spada, Giovanni B. Ferrero, Silvio Ferraris, Patrizia Dassi, Laura Jarre

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 201 KB

english, 2003

32

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

33

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

34

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

Alessandro Mussa, Giovanni Battista Ferrero, Barbara Ceoloni, Eleonora Basso, Nicoletta Chiesa, Agostina De Crescenzo, Ernesto Pepe, Margherita Silengo, Luisa de Sanctis

Journal:

European Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 147 KB

english, 2011

35

Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

Alessandro Mussa, Licia Peruzzi, Nicoletta Chiesa, Agostina De Crescenzo, Silvia Russo, Daniela Melis, Luigi Tarani, Giuseppina Baldassarre, Lidia Larizza, Andrea Riccio, Margherita Silengo, Giovanni

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 258 KB

english, 2012

36

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

37

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

38

Mental retardation, peculiar facial dysmorphism and HbH inclusions in a 4-year-old boy

Valenzise, Mariella, Ferrero, Giovanni, Tosi, Maria, Ferraris, Silvio, Silengo, Margherita

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 176 KB

english, 2002

39

Hair changes in congenital disorders of glycosylation (CDG type 1)

Margherita Silengo,Mariella Valenzise…

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

40

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

41

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

42

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

43

Heart-hand syndrome II. A report of Tabatznik syndrome with new findings

Margherita C. Silengo, M. Biagioli, A. Guala, Graciela Lopez-Bell, R. Lala

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 1.19 MB

english, 1990

44

R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy

Mariella Valenzise, Teresa Arrigo, Francesco De Luca, Agata Privitera, Alessandro Frigiola, Adriana Carando, Emanuela Garelli, Margherita Silengo

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 303 KB

english, 2008

45

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

46

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

47

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

48

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

49

Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy

Marco Seri, Roberto Cusano, Paola Forabosco, Roberta Cinti, Francesco Caroli, Paolo Picco, Rita Bini, Vincenzo Brescia Morra, Giuseppe De Michele, Margherita Lerone, Margherita Silengo, Ivana Pela, Ca

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 717 KB

english, 1999

50

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