M. Silengo

发表

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

J. Seidman, S. Weremowicz, R. Bruzzone, 1999, Proceedings of the National Academy of Sciences of the United States of America.

RET mutations in exons 13 and 14 of FMTC patients.

M. Schlumberger, A. Bolino, M. Silengo, 1995, Oncogene.

Frequency of RET mutations in long‐ and short‐segment Hirschsprung disease

B. Pasini, M. Abramowicz, D. Cass, 1997, Human mutation.

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

M. Silengo, G. Battistoni, M. Spada, 1999, American journal of medical genetics.

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

G. Romeo, G. Martucciello, M. Lerone, 1992, American journal of medical genetics.

Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

S. Bernasconi, M. P. Sperandeo, L. Garavelli, 2009, American journal of medical genetics. Part A.

Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity?

R. Ravazzolo, F. Ghezzi, L. Rosaia, 2000, Clinical dysmorphology.

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

R. Cusano, M. Seri, F. Caroli, 1999, American journal of medical genetics.

Fontaine-Farriaux craniosynostosis: second report in the literature.

R. Ravazzolo, V. Capra, R. Cusano, 2001, American journal of medical genetics.

Ectodermal dysplasias: not only ‘skin’ deep

R. Ravazzolo, M. Silengo, M. Priolo, 2000, Clinical genetics.

Trichorrhexis nodosa and lip pits in autosomal dominant ectodermal dysplasia--central nervous system malformation syndrome.

A. Pietragalla, M. Silengo, L. Jarre, 1997, American journal of medical genetics.

Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case

G. Romeo, M. Lerone, M. Silengo, 1992, Clinical genetics.

A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome.

G. Ferrero, M. Valenzise, M. Silengo, 2002, Clinical dysmorphology.

The NEU‐COFS (cerebro‐oculo‐facio‐skeletal) syndrome: report of a case

M. Silengo, P. Franceschini, M. Biagioli, 1984, Clinical genetics.

Ectodermal abnormalities in Kabuki syndrome.

G. Romeo, M. Silengo, M. Priolo, 1997, American journal of medical genetics.

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.

M. Devoto, V. Morra, R. Cusano, 1999, American journal of human genetics.

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

J. Opitz, C. Spaich, S. Braddock, 1999, American journal of medical genetics.

Leiomyomatosis of oesophagus, congenital cataracts and hematuria. Report of a case with rectal involvement.

G. Romeo, P. Tomà, G. Martucciello, 1991, Pediatric radiology.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

R. Hennekam, A. Latos-Bieleńska, A. Shaw, 2015, European journal of medical genetics.

Goldenhar anomaly in one of triplets derived from in vitro fertilization.

A. Ponzone, M. Silengo, S. Ferraris, 1999, American journal of medical genetics.

New clinical findings in oculo-ectodermal syndrome.

M. Seri, M. Priolo, M. Lerone, 2000, Clinical dysmorphology.

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.

R. Lala, M. Silengo, A. Linari, 2001, American journal of medical genetics.

Dandy-Walker complex in a child with Jeune's asphyxiating thoracic dystrophy

P. Gianino, P. Longo, C. Defilippi, 2000, Pediatric Radiology.

Lower extremity counterpart of the Poland syndrome

P. Boffi, M. Seri, M. Lerone, 1999, Clinical genetics.

Total Anonychia congenita in a Woman with Normal Intelligence: Report of a Further Case

R. Ravazzolo, M. Silengo, L. Rosaia, 2000, Dermatology.

Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings.

G. Romeo, V. Jasonni, G. Martucciello, 1993, American journal of medical genetics.

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

R. Ravazzolo, P. Gasparini, M. Carella, 1999, International journal of molecular medicine.

Complex cerebral malformation including Dandy-Walker in a newborn with trisomy 9 mosaicism.

A. Coscia, M. Silengo, G. Battistoni, 2002, La Radiologia medica.

Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome.

G. Romeo, M. Seri, M. Lerone, 1996, American journal of medical genetics.

A new syndrome with cerebro-oculo-skeletal-renal involvement

R. Gatti, G. Romeo, A. Barabino, 2005, Pediatric Radiology.