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Refinado por: Nome da Publicação: American Journal Of Medical Genetics remover
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1
X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability
X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability
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X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability

Brunetti-Pierri, Nicola ; Andreucci, Maria Vittoria ; Tuzzi, Rosaria ; Vega, Giovanna Roberta ; Gray, George ; McKeown, Carol ; Ballabio, Andrea ; Andria, Generoso ; Meroni, Germana ; Parenti, Giancarlo

American journal of medical genetics, 2003-03, Vol.117A (2), p.164-168 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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2
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review
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Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review

Rossi, Massimiliano ; Vajro, Pietro ; Iorio, Raffaele ; Battagliese, Antonella ; Brunetti-Pierri, Nicola ; Corso, Gaetano ; Di Rocco, Maja ; Ferrari, Paola ; Rivasi, Francesco ; Vecchione, Raffaella ; Andria, Generoso ; Parenti, Giancarlo

American journal of medical genetics, 2005-01, Vol.132A (2), p.144-151 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: A new syndrome?
Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: A new syndrome?
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Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: A new syndrome?

Salerno, M. ; Amabile, G. ; Mandato, C. ; Di Maio, S. ; Lecora, M. ; Avvedimento, E.V. ; Andria, G.

American journal of medical genetics, 2003-07, Vol.120A (3), p.389-394 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome?
New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome?
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New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome?

De Brasi, Daniele ; Brunetti-Pierri, Nicola ; Di Micco, Pasqua ; Andria, Generoso ; Sebastio, Gianfranco

American journal of medical genetics, 2003-03, Vol.117A (2), p.194-195 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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5
How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?
How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?
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How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?

Scala, Iris ; Sperandeo, Maria P. ; Fiorito, Valentina ; Andria, Generoso ; Sebastio, Gianfranco

American journal of medical genetics, 2003-12, Vol.123A (3), p.314-315 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
A new patient with Lowry–Wood syndrome with mild phenotype
A new patient with Lowry–Wood syndrome with mild phenotype
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A new patient with Lowry–Wood syndrome with mild phenotype

Brunetti‐Pierri, Nicola ; De Brasi, Daniele ; Ikegawa, Shiro ; Camera, Giovanni ; Andria, Generoso ; Sebastio, Gianfranco

American journal of medical genetics, 2003-04, Vol.118A (1), p.68-70 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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7
Congenital insensitivity to pain with anhidrosis: An NGF/TrkA-related disorder
Congenital insensitivity to pain with anhidrosis: An NGF/TrkA-related disorder
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Congenital insensitivity to pain with anhidrosis: An NGF/TrkA-related disorder

Toscano, Ennio ; Andria, Generoso

American journal of medical genetics, 2001-03, Vol.99 (2), p.164-164

New York: John Wiley & Sons, Inc

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8
Inv dup del (1)(pter→q44::q44→q42:) with the classical phenotype of trisomy 1q42-qter
Inv dup del (1)(pter→q44::q44→q42:) with the classical phenotype of trisomy 1q42-qter
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Inv dup del (1)(pter→q44::q44→q42:) with the classical phenotype of trisomy 1q42-qter

De Brasi, D. ; Rossi, E. ; Giglio, S. ; D'Agostino, A. ; Titomanlio, L. ; Farina, V. ; Andria, G. ; Sebastio, G.

American journal of medical genetics, 2001-11, Vol.104 (2), p.127-130

New York: John Wiley & Sons, Inc

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9
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
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Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene

Parenti, Giancarlo ; Rizzolo, Maria Grazia ; Ghezzi, Monica ; Maio, Salvatore Di ; Sperandeo, Maria Pia ; Incerti, Barbara ; Franco, Brunella ; Ballabio, Andrea ; Andria, Generoso

American journal of medical genetics, 1995-07, Vol.57 (3), p.476-478

New York: Wiley Subscription Services, Inc., A Wiley Company

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10
Centric fission of chromosome 9 in a boy with trisomy 9p
Centric fission of chromosome 9 in a boy with trisomy 9p
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Centric fission of chromosome 9 in a boy with trisomy 9p

Concolino, D. ; Cinti, R. ; Moricca, M. ; Andria, G. ; Strisciuglio, P.

American journal of medical genetics, 1998-08, Vol.79 (1), p.35-37

New York: John Wiley & Sons, Inc

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