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1

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

2

Antenatal ultrasonographic diagnosis of a proximal femoral focal deficiency

Gianni Camera, Danilo Dodero, Marco Parodi, Piero Zucchinett, Andrea Camera

Journal:

Journal of Clinical Ultrasound

Year:

1993

Language:

english

File:

PDF, 445 KB

english, 1993

3

A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis

Marco Seri, Iacopo Celli, Nicola Betsos, Franco Claudiani, Gianni Camera, Giovanni Romeo

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 537 KB

english, 1997

4

Holoprosencephaly and primary craniosynostosis: The Genoa syndrome

Gianni Camera, Mario Lituania, Dr. M. Michael Cohen Jr.

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 466 KB

english, 1993

5

Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: Report on a family with eight affected members in four generations

Dr. Gianni Camera, Andrea Camera, Silvano Pozzolo, Margherita Costa, Renzo Mantero

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 360 KB

english, 1995

6

Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height

Andrea Camera, Gianni Camera

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

7

“Angel-shaped phalanx” in a boy with oromandibular-limb hypogenesis

Gianni Camera, Gianluca Ferrari, Mario Igor Rossello, Andrea Camera

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 98 KB

english, 2003

8

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

Gianni Camera, Maurizia Baldi, Giuseppe Strisciuglio, Daniela Concolino, Pierpaolo Mastroiacovo, Maria Baffico

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 260 KB

english, 2001

9

Oral-facial-digital syndrome: Report on a transitional type between the Mohr and Váradi syndromes in a fetus

Dr. Gianni Camera, Maurizio Marasini, Silvano Pozzolo, Andrea Camera

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 388 KB

english, 1994

10

An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys)

Camera, Gianni, Baldi, Maurizia, Baffico, Maria, Pozzolo, Silvano

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 263 KB

english, 1997

11

Pitfalls of genetic counselling in brachydactyly type C

Dr. Gianni Camera, Andrea Camera, Margherita Costa, Renzo Mantero

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 251 KB

english, 1994

12

Another postnatal-onset obesity syndrome

Gianni Camera, Mario Marugo, Dr. M. Michael Cohen Jr.

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 272 KB

english, 1993

13

Ear malformation in baby born to mother using tretinoin cream

Camera, Gianni, Pregliasco, Paola

Journal:

Year:

1992

Language:

english

File:

PDF, 168 KB

english, 1992

14

“C” trigonocephaly syndrome: Two additional cases

Gianni Camera, Giovanni Serra, Angelo Selicorni

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 195 KB

english, 1990

15

Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with ade Novoα2(I) Gly922 → Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation

Antonella Forlino, Elena D'amato, Maurizia Valli, Gianni Camera, Elizabeth Hopkins, Joan C. Marini, Giuseppe Cetta, Domenico A. Coviello

Journal:

Biochemical and Molecular Medicine

Year:

1997

Language:

english

File:

PDF, 401 KB

english, 1997

16

Pyknoachondrogenesis: An association of skeletal defects resembling achondrogenesis with generalized bone sclerosis. A new condition?

Gianni Camera, Francesco Giordano, Pierpaolo Mastroiacovo

Journal:

Clinical Genetics

Year:

1986

Language:

english

File:

PDF, 233 KB

english, 1986

17

Biology and Role of Extracellular Vesicles (EVs) in the Pathogenesis of Thrombosis

Zarà, Marta, Guidetti, Gianni Francesco, Camera, Marina, Canobbio, Ilaria, Amadio, Patrizia, Torti, Mauro, Tremoli, Elena, Barbieri, Silvia Stella

Journal:

International Journal of Molecular Sciences

Year:

2019

Language:

english

File:

PDF, 810 KB

english, 2019

18

Prenatal diagnosis of thanatophoric dysplasia at 24 weeks

Dr. Gianni Camera, Danilo Dodero, Sergio De Pascale

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 254 KB

english, 1984

19

Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation

Massimo Cordone, Mario Lituania, Giancarlo Bocchino, Ubaldo Passamonti, Paolo Tomà, Gianni Camera

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 518 KB

english, 1993

20

Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: A new syndrome

Dr. Alessandra Ferlini, Michele Ragno, Paola Gobbi, Carlo Marinucci, Roberto Rossi, Adele Zanetti, Mario Milan, Gianni Camera, Elisa Calzolari

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 635 KB

english, 1995

21

Meier-Gorlin syndrome (ear–patella–short stature syndrome) in an Italian patient: Clinical evaluation and analysis of possible candidate genes

Amnon Cohen, Roberta Mulas, Marco Seri, Alberto Gaiero, Graziella Fichera, Monica Marini, Maria Baffico, Gianni Camera

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 195 KB

english, 2002

22

Diprosopus with associated malformations: Report of two cases

Lorenzo Pavone, Gianni Camera, Sebastiano Grasso, Claudio Gambini, Mauro Barberis, Salvo Garaffo, Sebastiano Russo, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 235 KB

english, 1987

23

F-syndrome (F-form of acro-pectoro-vertebral dysplasia): Report on a second family

Dr. Gianni Camera, Andrea Camera, Silvano Pozzolo, Margherita Costa, Renzo Mantero

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 459 KB

english, 1995

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