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1

HDR syndrome: A novel “de novo” mutation in GATA3 gene

Silvio Ferraris, Angelo Giovanni Del monaco, Emanuela Garelli, Adriana Carando, Barbara De Vito, Patrizia Pappi, Roberto Lala, Alberto Ponzone

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 185 KB

english, 2009

2

Short prolactin profile for monitoring treatment in BH4 deficiency

Porta, Francesco, Ponzone, Alberto, Spada, Marco

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 305 KB

english, 2015

3

Characteristics of Cell Proliferation in Children's Lymphoblastic Leukemia

Pileri, Alessandro, Tarocco, Renzo Pietro, Gavosto, Felice, Ponzone, Alberto, Nicola, Paolo

Journal:

Year:

1968

File:

PDF, 874 KB

1968

4

Neonatal phenylalanine wash-out in phenylketonuria

Porta, Francesco, Ponzone, Alberto, Spada, Marco

Journal:

Metabolic Brain Disease

Year:

2020

File:

PDF, 271 KB

2020

5

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

6

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

Tanja Oppliger, Beat Thöny, Claudia Kluge, Ana Matasovic, Claus W. Heizmann, Alberto Ponzone, Marco Spada, Nenad Blau

Journal:

Year:

1997

Language:

english

File:

PDF, 191 KB

english, 1997

7

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

Irma Dianzani, Luisa de Sanctis, Peter M. Smooker, Tamara J. Gough, Carla Alliaudi, Alfredo Brusco, Marco Spada, Nenad Blau, Marion Dobos, Hong-Ping Zhang, Nan Yang, Alberto Ponzone, Wilfred L. F. Arm

Journal:

Year:

1998

Language:

english

File:

PDF, 230 KB

english, 1998

8

Fifth International Mutation Detection Workshop, May 13–16, 1999, Vicoforte, Italy

Irma Dianzani, Ulf Landegren, Clara Camaschella, Alberto Ponzone, Alberto Piazza, Richard G.H. Cotton

Journal:

Year:

1999

Language:

english

File:

PDF, 112 KB

english, 1999

9

Dihydropteridine Reductase Deficiency in Man: From Biology to Treatment

Alberto Ponzone, Marco Spada, Silvio Ferraris, Irma Dianzani, Luisa de Sanctis

Journal:

Year:

2004

File:

PDF, 49 KB

2004

10

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

Irma Dianzani, Per M. Knappskog, Luisa de Sanctis, Sergio Giannattasio, Enrica Riva, Alberto Ponzone, Jaran Apold, Clara Camaschella

Journal:

Year:

1995

Language:

english

File:

PDF, 273 KB

english, 1995

11

Dihydropteridine reductase deficiency in man: From biology to treatment

Alberto Ponzone, Marco Spada, Silvio Ferraris, Irma Dianzani, Luisa de Sanctis

Journal:

Medicinal Research Reviews

Year:

2004

Language:

english

File:

PDF, 356 KB

english, 2004

12

Prenatal diagnosis by minisatellite analysis in italian families with phenylketonuria

Valentino Romano, Irma Dianzani, Alberto Ponzone, Enrico Zammarchi, Randi Eisensmith, Nadia Ceratto, Paolo Bosco, Anna Indelicato

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 311 KB

english, 1994

13

Monamine oxidase inhibitors in tetrahydrobiopterin deficiency

Agnes Schuler, Nenad Blau, Alberto Ponzone

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 120 KB

english, 1995

14

Il test del nitroblu tetrazolio

Alberto Ponzone

Journal:

International Journal of Clinical & Laboratory Research

Year:

1974

Language:

italian

File:

PDF, 1.85 MB

italian, 1974

15

In response to van Spronsen et al (2009) Phenylalanine tolerance can already reliably be assessed at the age of 2

Alberto Ponzone, Alessandro Mussa, Francesco Porta

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 79 KB

english, 2009

16

Analgesic Techniques in Minor Painful Procedures in Neonatal Units: A Survey in Northern Italy

Luigi Codipietro, Elena Bailo, Marco Nangeroni, Alberto Ponzone, Giuseppe Grazia

Journal:

Year:

2011

Language:

english

File:

PDF, 124 KB

english, 2011

17

Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy

Dianzani, Irma, Cotton, Richard GH, Camaschella, Clara, Ponzone, Alberto, Piazza, Alberto, Landegren, Ulf

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 103 KB

english, 1999

18

Pathological classification of ductal carcinoma in situ of the breast correlates with surgical treatment and may be predicted by mammography

Riccardo Ponzone, Annelis Dominguez, Vincenzo Marra, Alberto Pisacane, Furio Maggiorotto, Maria Elena Jacomuzzi, Alessandra Magistris, Nicoletta Biglia, Piero Sismondi

Journal:

Year:

2007

Language:

english

File:

PDF, 133 KB

english, 2007

19

Breastfeeding effects on newborn screening

Francesco Porta, Alessandro Mussa, Alberto Ponzone

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 87 KB

english, 2010

20

Tetrahydrobiopterin and phenylketonuria

Francesco Porta, Marco Spada, Davide Garelli, Alessandro Mussa, Alberto Ponzone

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 123 KB

english, 2011

21

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency

Alberto Ponzone, Francesco Porta, Alessandro Mussa, Alessandra Alluto, Silvio Ferraris, Marco Spada

Journal:

Year:

2010

Language:

english

File:

PDF, 454 KB

english, 2010

22

Characteristics of ferritins in human milk secretions: Similarities to serum and tissue isoferritins

Paolo Arosio, Alberto Ponzone, Roberto Ferrero, Isabella Renoldi, Sonia Levi

Journal:

Clinica Chimica Acta

Year:

1986

Language:

english

File:

PDF, 485 KB

english, 1986

23

Clinical and radiological predictors of nipple-areola complex involvement in breast cancer patients

Marta D’Alonzo, Laura Martincich, Nicoletta Biglia, Alberto Pisacane, Furio Maggiorotto, Giovanni De Rosa, Filippo Montemurro, Franziska Kubatzki, Piero Sismondi, Riccardo Ponzone

Journal:

European Journal of Cancer

Year:

2012

Language:

english

File:

PDF, 319 KB

english, 2012

24

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency

Leandra Jäggi, Marcel R. Zurflüh, Agnes Schuler, Alberto Ponzone, Francesco Porta, Laura Fiori, Marcello Giovannini, René Santer, Georg F. Hoffmann, Hans Ibel, Udo Wendel, Diana Ballhausen, Matthias R

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.20 MB

english, 2008

25

Dopamine agonists in dihydropteridine reductase deficiency

Francesco Porta, Alessandro Mussa, Daniela Concolino, Marco Spada, Alberto Ponzone

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 236 KB

english, 2012

26

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, Robert J. Desnick

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.24 MB

english, 2006

27

Mamary Control of Iron Secretion in Milk

ALBERTO PONZONE, ROBERTO FERRERO, PAOLO AROSIO

Journal:

Annals of the New York Academy of Sciences

Year:

1986

Language:

english

File:

PDF, 44 KB

english, 1986

28

NBT test in thalassemia

Pier Angelo Tovo, Roberto Miniero, Alberto Ponzone

Journal:

The Journal of Pediatrics

Year:

1977

Language:

english

File:

PDF, 89 KB

english, 1977

29

DHPR deficiency in italy

Alberto Ponzone, Vittorio Ricca, Silvio Feraris, Ornella Guardamagna, Guglielmo Bracco, Severo Pagliardini, Federico Levis, Marcello Giovannini, Enrica Riva, Riccardo Longhi

Journal:

The Journal of Pediatrics

Year:

1984

Language:

english

File:

PDF, 80 KB

english, 1984

30

Biotransformation of Colchicinoids into Their Corresponding 3-O-Glucosyl Derivatives by Selected Strains ofBacillus megaterium

Ponzone, Cesare, Berlanda, Davide, Donzelli, Fabio, Acquati, Valter, Ciulla, Rosalba, Negrini, Alberto, Rovati, Marco, Evangelista, Douglas, Fata, Emilio, Ciceri, Daniele, Perterlongo, Federico, Cabri

Journal:

Molecular Biotechnology

Year:

2014

Language:

english

File:

PDF, 426 KB

english, 2014

31

UNRESPONSIVENESS TO PHYTO-HÆMAGGLUTININ OF ACUTE LYMPHOBLASTIC LEUKÆMIA CELLS

Pileri, Alessandro, Ponzone, Alberto, Tarocco, RenzoPietro, Gavosto, Felice

Journal:

Year:

1968

Language:

english

File:

PDF, 381 KB

english, 1968

32

Newborn screening for galactosemia: a 30-year single center experience

Porta, Francesco, Pagliardini, Severo, Pagliardini, Veronica, Ponzone, Alberto, Spada, Marco

Journal:

World Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 608 KB

english, 2015

33

Catalytic Activity of Tetrahydrobiopterin in Dihydropteridine Reductase Deficiency and Indications for Treatment

Ponzone, Alberto, Guardamagna, Ornella, Dianzani, Irma, Ponzone, Riccardo, Ferrero, Giovanni Battista, Spada, Marco, Cotton, Richard G H

Journal:

Pediatric Research

Year:

1993

Language:

english

File:

PDF, 416 KB

english, 1993

34

Cardiac Response to Enzyme-Replacement Therapy in Gaucher's Disease

Spada, Marco, Chiappa, Enrico, Ponzone, Alberto

Journal:

Boston Medical and Surgical Journal

Year:

1998

Language:

english

File:

PDF, 156 KB

english, 1998

35

Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes

Giannattasio, Sergio, Dianzani, Irma, Lattanzio, Paolo, Spada, Marco, Romano, Valentino, Cal&igrave, , Francesco, Andria, Generoso, Ponzone, Alberto, Marra, Ersilia, Piazza, Alberto

Journal:

Year:

2001

Language:

english

File:

PDF, 154 KB

english, 2001

36

Genealogy of breastfeeding

Porta, Francesco, Mussa, Alessandro, Baldassarre, Giuseppina, Perduca, Vittorio, Farina, Daniele, Spada, Marco, Ponzone, Alberto

Journal:

European Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 807 KB

english, 2016

37

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

Ponzone, Alberto, Guardamagna, Ornella, Ferraris, Silvio, Ferrero, Giovanni B, Dianzani, Irma, Cotton, Richard G H

Journal:

Pediatric Research

Year:

1991

Language:

english

File:

PDF, 335 KB

english, 1991

38

MRI and intraoperative pathology to predict nipple–areola complex (NAC) involvement in patients undergoing NAC-sparing mastectomy

Ponzone, Riccardo, Maggiorotto, Furio, Carabalona, Silvia, Rivolin, Alessandro, Pisacane, Alberto, Kubatzki, Franziska, Renditore, Stefania, Carlucci, Salvatore, Sgandurra, Paola, Marocco, Francesco,

Journal:

European Journal of Cancer

Year:

2015

Language:

english

File:

PDF, 524 KB

english, 2015

39

Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency

Porta, Francesco, Ponzone, Alberto, Spada, Marco

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 279 KB

english, 2016

40

Impact of Neonatal Protein Metabolism and Nutrition on Screening for Phenylketonuria

Ponzone, Alberto, Spada, Marco, Roasio, Luca, Porta, Francesco, Mussa, Alessandro, Ferraris, Silvio

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2008

Language:

english

File:

PDF, 151 KB

english, 2008

41

Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency

Porta, Francesco, Ponzone, Alberto, Spada, Marco

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 244 KB

english, 2016

42

Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria

Porta, Francesco, Spada, Marco, Ponzone, Alberto

Journal:

Year:

2017

Language:

english

File:

PDF, 724 KB

english, 2017

43

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

Gregersen, Niels, Winter, Vibeke, Curtis, Diana, Deufel, Thomas, Mack, Marion, Hendrickx, Jan, Willems, Patrick J., Ponzone, Alberto, Parrella, Teresa, Ponzone, Riccardo, Ding, Jia-Huan, Zhang, Wen, C

Journal:

Year:

1993

Language:

english

File:

PDF, 1.19 MB

english, 1993

44

Neonatal screening for biotinidase deficiency: A 30-year single center experience

Porta, Francesco, Pagliardini, Veronica, Celestino, Isabella, Pavanello, Enza, Pagliardini, Severo, Guardamagna, Ornella, Ponzone, Alberto, Spada, Marco

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 156 KB

english, 2017

45

The α′ Subunit from Soybean 7S Globulin Lowers Plasma Lipids and Upregulates Liver β-VLDL Receptors in Rats Fed a Hypercholesterolemic Diet

Duranti, Marcello, Lovati, Maria Rosa, Dani, Valeria, Barbiroli, Alberto, Scarafoni, Alessio, Castiglioni, Silvia, Ponzone, Cesare, Morazzoni, Paolo

Journal:

Journal of Nutrition

Year:

2004

Language:

english

File:

PDF, 184 KB

english, 2004

46

β2-Microglobulin in Colostral Secretions

Voglino, Gian Franco, Ponzone, Alberto

Journal:

Year:

1976

Language:

english

File:

PDF, 717 KB

english, 1976

47

Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects

Porta, Francesco, Ponzone, Alberto, Spada, Marco

Journal:

European Journal of Paediatric Neurology

Year:

2020

File:

PDF, 420 KB

2020