Publications by authors named "Claudia Izzi"

58Publications

Testicular Involvement is a Hallmark of Apo A-I Leu75Pro Mutation Amyloidosis.

J Clin Endocrinol Metab 2020 Dec;105(12)

Department of Clinical and Experimental Sciences, Unit of Endocrinology and Metabolism, University of Brescia and ASST Spedali Civili Brescia, Brescia, Italy.

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http://dx.doi.org/10.1210/clinem/dgaa587DOI Listing
December 2020

[The complex etiopathogenesis of focal segmental glomerulosclerosis].

G Ital Nefrol 2020 Aug 11;37(4). Epub 2020 Aug 11.

Università degli Studi di Brescia, Dipartimento di Specialità Medico-Chirurgiche, Scienze Radiologiche e Sanità Pubblica (DSMC), Brescia, Italia; ASST Spedali Civili, Brescia, Italia.

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August 2020

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.

Authors:
Jingyuan Xie Lili Liu Nikol Mladkova Yifu Li Hong Ren Weiming Wang Zhao Cui Li Lin Xiaofan Hu Xialian Yu Jing Xu Gang Liu Yasar Caliskan Carlo Sidore Olivia Balderes Raphael J Rosen Monica Bodria Francesca Zanoni Jun Y Zhang Priya Krithivasan Karla Mehl Maddalena Marasa Atlas Khan Fatih Ozay Pietro A Canetta Andrew S Bomback Gerald B Appel Simone Sanna-Cherchi Matthew G Sampson Laura H Mariani Agnieszka Perkowska-Ptasinska Magdalena Durlik Krzysztof Mucha Barbara Moszczuk Bartosz Foroncewicz Leszek Pączek Ireneusz Habura Elisabet Ars Jose Ballarin Laila-Yasmin Mani Bruno Vogt Savas Ozturk Abdülmecit Yildiz Nurhan Seyahi Hakki Arikan Mehmet Koc Taner Basturk Gonca Karahan Sebahat Usta Akgul Mehmet Sukru Sever Dan Zhang Domenico Santoro Mario Bonomini Francesco Londrino Loreto Gesualdo Jana Reiterova Vladimir Tesar Claudia Izzi Silvana Savoldi Donatella Spotti Carmelita Marcantoni Piergiorgio Messa Marco Galliani Dario Roccatello Simona Granata Gianluigi Zaza Francesca Lugani GianMarco Ghiggeri Isabella Pisani Landino Allegri Ben Sprangers Jin-Ho Park BeLong Cho Yon Su Kim Dong Ki Kim Hitoshi Suzuki Antonio Amoroso Daniel C Cattran Fernando C Fervenza Antonello Pani Patrick Hamilton Shelly Harris Sanjana Gupta Chris Cheshire Stephanie Dufek Naomi Issler Ruth J Pepper John Connolly Stephen Powis Detlef Bockenhauer Horia C Stanescu Neil Ashman Ruth J F Loos Eimear E Kenny Matthias Wuttke Kai-Uwe Eckardt Anna Köttgen Julia M Hofstra Marieke J H Coenen Lambertus A Kiemeney Shreeram Akilesh Matthias Kretzler Lawrence H Beck Benedicte Stengel Hanna Debiec Pierre Ronco Jack F M Wetzels Magdalena Zoledziewska Francesco Cucca Iuliana Ionita-Laza Hajeong Lee Elion Hoxha Rolf A K Stahl Paul Brenchley Francesco Scolari Ming-Hui Zhao Ali G Gharavi Robert Kleta Nan Chen Krzysztof Kiryluk

Nat Commun 2020 03 30;11(1):1600. Epub 2020 Mar 30.

Department of Medicine, Division of Nephrology, Columbia University, College of Physicians & Surgeons, New York, USA.

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http://dx.doi.org/10.1038/s41467-020-15383-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105485PMC
March 2020

Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.

Prenat Diagn 2019 07 2;39(8):652-655. Epub 2019 Jul 2.

Prenatal Diagnosis Unit, Department of Obstetrics and Gynecology, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1002/pd.5494DOI Listing
July 2019

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 04;51(4):764

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41588-019-0376-0DOI Listing
April 2019

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 01 21;51(1):117-127. Epub 2018 Dec 21.

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://www.nature.com/articles/s41588-018-0281-y
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http://dx.doi.org/10.1038/s41588-018-0281-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668343PMC
January 2019

Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations.

Blood Transfus 2019 05 8;17(3):247-254. Epub 2018 Oct 8.

Atherosclerosis and Thrombosis Unit, Fondazione IRCCS "Casa Sollievo della Sofferenza", San Giovanni Rotondo (Foggia), Italy.

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http://dx.doi.org/10.2450/2018.0123-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6596374PMC
May 2019

Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature.

Am J Med Genet B Neuropsychiatr Genet 2018 12 22;177(8):687-690. Epub 2018 Oct 22.

Pediatric Neurology and Psychiatric Department, Ospedale dei Bambini di Brescia, Brescia, Lombardia, Italy.

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http://doi.wiley.com/10.1002/ajmg.b.32677
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http://dx.doi.org/10.1002/ajmg.b.32677DOI Listing
December 2018

[ADPKD and Heart].

G Ital Nefrol 2017 Mar;34(Suppl 69):119-130

Cattedra di Nefrologia, Università di Brescia, Italy.

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March 2017

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.

Radiol Med 2017 Nov 3;122(11):880-891. Epub 2017 Jul 3.

Prenatal Diagnosis Unit, Department of Obstretics and Gynecology, ASST Spedali Civili of Brescia, Brescia, Italy.

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http://link.springer.com/10.1007/s11547-017-0784-0
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http://dx.doi.org/10.1007/s11547-017-0784-0DOI Listing
November 2017

Chromosomal Microarray and Fetal Growth Restriction.

Fetal Diagn Ther 2017;42(3):240. Epub 2017 Mar 4.

Department of Obstetrics and Gynecology, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1159/000458723DOI Listing
March 2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.

From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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http://dx.doi.org/10.1056/NEJMoa1609009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731PMC
February 2017

[Hyperuricemia and Gout].

G Ital Nefrol 2016 Malattie Metaboliche e Rene;33(S68)

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October 2017

[ADPKD: predictors of Renal Disease progression].

G Ital Nefrol 2016 Sep-Oct;33(5)

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November 2017

[Molecular diagnosis of ADPKD].

G Ital Nefrol 2016 Sep-Oct;33(5)

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November 2017

[Clinical diagnosis of Autosomal Dominant Polycystic Kidney Disease].

G Ital Nefrol 2016 Mar-Apr;33(2)

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July 2017

[Genetics of mesangial IgA nephropathy].

G Ital Nefrol 2015 ;32 Suppl 64

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December 2016

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis.

Prenat Diagn 2015 Nov 11;35(11):1117-27. Epub 2015 Sep 11.

Research and Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, VA, Italy.

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http://dx.doi.org/10.1002/pd.4656DOI Listing
November 2015

Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis.

Kidney Int 2015 Jun 7;87(6):1223-9. Epub 2015 Jan 7.

Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and Montichiari Hospital, Brescia, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00852538153013
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http://dx.doi.org/10.1038/ki.2014.389DOI Listing
June 2015

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nat Genet 2014 Nov 12;46(11):1187-96. Epub 2014 Oct 12.

Division of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1038/ng.3118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213311PMC
November 2014

The Case | Cystic renal disease, nephrogenic diabetes insipidus, and polycytemia.

Kidney Int 2014 Oct;86(4):863-4

Division of Nephrology, Department of Medical and Surgical Specialties, Radiological Sciences, University of Brescia and Montichiari Hospital, Brescia, Italy.

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http://dx.doi.org/10.1038/ki.2013.445DOI Listing
October 2014

Uromodulin: from monogenic to multifactorial diseases.

Nephrol Dial Transplant 2015 Aug 16;30(8):1250-6. Epub 2014 Sep 16.

Division of Nephrology, IRCCS Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1093/ndt/gfu300DOI Listing
August 2015

Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.

Skeletal Radiol 2014 Sep 25;43(9):1205-15. Epub 2014 May 25.

Orthopaedic Clinic, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy,

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http://dx.doi.org/10.1007/s00256-014-1899-1DOI Listing
September 2014

Fetal abdominal wall defects.

Best Pract Res Clin Obstet Gynaecol 2014 Apr 3;28(3):391-402. Epub 2013 Dec 3.

Prenatal Diagnosis Unit, Department of Obstetrics and Gynaecology, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.bpobgyn.2013.10.003DOI Listing
April 2014

Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

Am J Med Genet A 2013 Oct 15;161A(10):2614-9. Epub 2013 Aug 15.

Laboratory of Genetic Disorders of Childhood, A. Nocivelli Institute for Molecular Medicine, Department of Pathology, Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36115DOI Listing
October 2013

Mutations in DSTYK and dominant urinary tract malformations.

N Engl J Med 2013 Aug 17;369(7):621-9. Epub 2013 Jul 17.

Divisions of Nephrology (S.S.-C., R.V.S., N.P., K.E.B., S.N.N., B.J.P., P.L.W., M.V., F.L., R.S., N.P., N.K., K.K., Q.A.-A., A.G.G.) and Pediatric Nephrology (P.L.W.) and the Department of Pathology (V.D.D.), Columbia University, and the Department of Medicine, St. Luke's-Roosevelt Hospital Center (S.S.-C.), New York; the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (M.C., M.S., R.P.L.); the Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea (M.C.); the Division of Nephrology, Dialysis, and Transplantation (M.B., F.L., G.C., A.C., M.D., C.M., G.P., G.M.G.) and Laboratory of Molecular Genetics (G.S., R.R.), Istituto Giannina Gaslini, the Division of Nephrology, Department of Internal Medicine (M.B.), and Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno Infantili (R.R.), University of Genoa, and IRCCS San Martino-IST (M.B.), Genoa; Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia (C.I., F.S.); the Department of Clinical Medicine, Nephrology, and Health Sciences, Unit of Nephrology, University of Parma, Parma (B.B., S.G., L.A.); the Department of Medical and Surgical Sciences, University of Foggia, Foggia (M.G.); the Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.); and the Division of Nephrology and Dialysis, Hospital of Alghero, Alghero (D.C.) - all in Italy; the Nephrology Division, Massachusetts General Hospital (Y.L., I.A.D.), and Department of Genetics, Harvard Medical School (I.A.D.), Charlestown, MA; University Children's Hospital, Medical School of Skopje, Skopje, Macedonia (V.J.L., N.R.-B., Z.G., V.T.); the Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland (A.M.-K., A.L.-B.); and the Department of Pediatrics, University Hospital of Split (D.K.V., M.S.), and the Department of Anatomy, Histology, and Embryology (K.V., M.S.-B.), School of Medicine (M.S.), University of Split, Split, Croatia.

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http://dx.doi.org/10.1056/NEJMoa1214479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846391PMC
August 2013

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

Pediatr Nephrol 2011 May 14;26(5):717-24. Epub 2010 Dec 14.

Department Molecular Biology, Medical Genetics, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s00467-010-1693-9DOI Listing
May 2011

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.

Kidney Int 2011 Mar;79(6):691-692

Second Division of Nephrology, Spedali Civili di Brescia, Montichiari Hospital, Montichiari, Italy; Department of Nephrology, University of Brescia, Brescia, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00852538155486
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http://dx.doi.org/10.1038/ki.2010.514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071282PMC
March 2011

[Genetics and nosological classification of renal cystic diseases].

G Ital Nefrol 2010 Sep-Oct;27 Suppl 50:S63-9

Seconda Divisione di Nefrologia e Dialisi, Azienda Ospedaliera Spedali Civili di Brescia, Presidio di Montichiari, Brescia, Italy.

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January 2011

IgA nephropathy--the case for a genetic basis becomes stronger.

Nephrol Dial Transplant 2010 Feb 13;25(2):336-8. Epub 2009 Nov 13.

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http://dx.doi.org/10.1093/ndt/gfp593DOI Listing
February 2010

Renal outcome in patients with congenital anomalies of the kidney and urinary tract.

Kidney Int 2009 Sep 17;76(5):528-33. Epub 2009 Jun 17.

Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.

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http://dx.doi.org/10.1038/ki.2009.220DOI Listing
September 2009

Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds.

J Am Soc Nephrol 2005 Jun 13;16(6):1781-7. Epub 2005 Apr 13.

Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, 630 W 168th Street, P&S 10-432 New York, NY 10032, USA.

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http://dx.doi.org/10.1681/ASN.2004121034DOI Listing
June 2005

Uromodulin storage diseases: clinical aspects and mechanisms.

Am J Kidney Dis 2004 Dec;44(6):987-99

Divisione di Nefrologia, Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1053/j.ajkd.2004.08.021DOI Listing
December 2004

Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy.

Am J Med Genet B Neuropsychiatr Genet 2003 Nov;123B(1):59-63

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnologies, Brescia University Medical School, Brescia, Italy.

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http://dx.doi.org/10.1002/ajmg.b.20024DOI Listing
November 2003

Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure.

Am J Med Genet 2002 Apr;114(3):354-9

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnologies, Brescia University Medical School, Brescia, Italy.

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http://dx.doi.org/10.1002/ajmg.10254DOI Listing
April 2002