P. Franceschini

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Reply to correspondence by Prais et al.—“COIF syndrome: The diversity of clinical and radiological findings”

A. Guala, P. Franceschini, D. Licata, 2002 .

Osteogenesis imperfecta associated with increased nuchal translucency as a first ultrasound sign: report of another case

E. Viora, A. Sciarrone, S. Bastonero, 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

M. Brodsky, B. Hart, J. Demer, 2003, Nature Genetics.

The metacarpophalangeal profile in a family with congenital contractural arachnodactyly.

D. Milewicz, C. Danesino, A. Guala, 2000, Genetic counseling.

Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: A possible new palato-digital syndrome

A. Cerutti, M. Silengo, C. Fabris, 1977, Pediatric Radiology.

Poland sequence and hyperhomocyst(e)inaemia

A. Guala, P. Franceschini, D. Licata, 2002, Prenatal diagnosis.

Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.

A. Guala, E. Ferrario, P. Franceschini, 1992, American journal of medical genetics.

X/Y translocation in a family with X‐linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene

A. Ballabio, G. Coppa, G. Andria, 1988, Clinical genetics.

Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.

A. Guala, P. Franceschini, D. Franceschini, 1995, American journal of medical genetics.

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

M. Silengo, P. Franceschini, R. Bianco, 1982, Clinical genetics.

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

N. Zoppi, M. Colombi, A. Guala, 2007, American Journal of Medical Genetics. Part A.

Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome

A. Guala, P. Tovo, P. Franceschini, 1995, European Journal of Pediatrics.

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

J. Seidman, B. Bruneau, M. Bamshad, 1997, Nature Genetics.

Feeblemindedness and XXXX karyotype.

P. Franceschini, L. Di Cagno, Livia Di Cagno, 2008, Journal of mental deficiency research.

Distinctive skeletal dysplasia in Cockayne syndrome

L. Benso, M. Cirillo Silengo, P. Franceschini, 1986, Pediatric Radiology.

Recessive spondylocostal dysostosis: Two new cases

S. Cavallaro, M. Silengo, P. Franceschini, 1978, Clinical genetics.

Triphalangeal thumb and brachy‐ectrodactyly syndrome

P. Franceschini, M. Biagioli, M. Silengo, 1987, Clinical Genetics.

Prenatal diagnosis of lethal multiple pterygium syndrome in mid‐pregnancy

T. Todros, A. Sciarrone, P. Franceschini, 1998, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

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

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

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

M. Silengo, P. Franceschini, M. Biagioli, 1988, Clinical genetics.

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18.

A. Guala, P. Franceschini, D. Franceschini, 1996, American journal of medical genetics.

Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.

A. Guala, A. Corrias, P. Franceschini, 1993, American journal of medical genetics.

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

A. Guala, M. Bianchi, G. Di Cara, 1999, American journal of medical genetics.

The Coffin-Siris syndrome in two siblings

M. Silengo, A. Guala, M. Cirillo Silengo, 2006, Pediatric Radiology.

Kniest disease with Pierre Robin syndrome and hydrocephalus

M. Cirillo Silengo, P. Franceschini, R. Bianco, 2006, Pediatric Radiology.

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

M. Silengo, C. Fabris, P. Franceschini, 1978, Human genetics.

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

A. Guala, L. Genitori, G. Di Cara, 2000, American journal of medical genetics.

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

M. Silengo, A. Guala, P. Franceschini, 1986, Clinical genetics.

Cerebro–reno–digital (Meckel‐like) syndrome with limb malformations and acetabular spurs in two sibs: A new MCA syndrome?

P. Gaglioti, A. Guala, P. Franceschini, 2004, American journal of medical genetics. Part A.

Oro‐facial‐digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases

M. Silengo, P. Franceschini, G. L. Bell, 1987, Clinical genetics.

Arterial tortuosity syndrome.

A. Guala, G. Di Cara, P. Franceschini, 2000, American journal of medical genetics.

Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome (ARCI)

L. Barberis, P. Franceschini, 1997, European journal of pediatrics.

Rapunzel syndrome: how to orient the diagnosis

C. Danesino, A. Guala, M. Barbaglia, 2018, Pediatric reports.

Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome).

A. Guala, G. Di Cara, P. Franceschini, 2001, American journal of medical genetics.

Pre-B acute lymphoblastic leukemia in a patient with partial lipodystrophy and acanthosis nigricans.

R. Miniero, A. Guala, E. Barisone, 1995, Panminerva medica.

Trisomy-8 mosaicism: Report of a case

M. Silengo, P. Franceschini, G. Davi, 1978, Human Genetics.

Radiological features in Trisomy 8

M. Silengo, P. Franceschini, G. Davi, 1979, Pediatric Radiology.

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

M. Silengo, C. Fabris, P. Franceschini, 1978, Human Genetics.

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

M. Silengo, P. Franceschini, G. Davi, 2004, Human Genetics.

Prenatal diagnosis of Nonne‐Milroy lymphedema

A. Guala, G. Di Cara, P. Franceschini, 2001, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Tetralogy of fallot in a patient with developmental coxa vara/spondylometaphyseal dysplasia‐corner fracture type (DCV/SMD‐CF) expanding the variability

A. Guala, G. Ingrosso, P. Franceschini, 2005, American journal of medical genetics. Part A.

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

M. Cirillo Silengo, P. Franceschini, M. Biagioli, 2004, Human Genetics.

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

G. Novelli, A. Guala, P. Franceschini, 1984, Clinical genetics.

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.

G. Lathrop, Raoul Rooman, C. Julier, 2004, Diabetes.

Mutations in human TBX3 alter limb, apocrine, and genital development in ulnar-mammary syndrome

J. Seidman, B. Bruneau, M. Bamshad, 1998, Nature Genetics.

Radioulnar synostosis and XYY syndrome.

A. Guala, G. Di Cara, P. Franceschini, 2000, Clinical Dysmorphology.

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome.

G. Restagno, A. Guala, L. Genitori, 1998, American journal of medical genetics.

Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta.

E. Viora, A. Sciarrone, S. Bastonero, 2002, American journal of medical genetics.

Gershoni–Baruch syndrome: Report of a new family confirming autosomal recessive inheritance

A. Guala, G. Angeli, G. Di Cara, 2003, American journal of medical genetics. Part A.

Patterson–Lowry rhizomelic dysplasia: Report of two new patients

A. Guala, G. Di Cara, G. Ingrosso, 2004, American journal of medical genetics. Part A.

Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.

R. Lala, P. Matarazzo, P. Franceschini, 1992, American journal of medical genetics.

The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism.

M. Silengo, P. Franceschini, G. Davi, 1979, Acta Paediatrica Scandinavica.

A new type of Ehlers‐Danlos syndrome associated with tortuous systemic arteries?

A. Guala, P. Franceschini, D. Licata, 2003, Acta paediatrica.

A new type of Ehlers‐Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar Reply

A. Guala, P. Franceschini, D. Licata, 2003 .

Arterial tortuosity syndrome.

A. Guala, P. Franceschini, D. Licata, 2000, American journal of medical genetics.

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

M. Silengo, P. Franceschini, M. Biagioli, 2004, Human Genetics.

A family with three sibs carrying trisomy 21.

M. Stefanini, L. Larizza, G. Simoni, 1975, Annales de genetique.

The Williams syndrome: an Italian collaborative study.

G. Scarano, O. Gabrielli, G. Neri, 1996, Minerva pediatrica.

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.

G. Lathrop, Raoul Rooman, C. Julier, 2004, Diabetes.

Variability of the Brachmann-de Lange syndrome.

G. Scarano, G. Zampino, P. Mastroiacovo, 1993, American journal of medical genetics.