PubMed

Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease.

Bernardo ME, Avanzini MA, Ciccocioppo R, Perotti C, Cometa AM, Moretta A, Marconi M, Valli M, Novara F, Bonetti F, Zuffardi O, Maccario R, Corazza GR, Locatelli F.

Cytotherapy. 2009;11(7):825-36.PMID: 19903096 [PubMed - in process]Related articles

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Novara F, Pramparo T, Bernardina BD, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB.

Eur J Hum Genet. 2009 Oct 7. [Epub ahead of print]PMID: 19809484 [PubMed - as supplied by publisher]Related articles

Xp22.3 Genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R.

Epilepsia. 2009 Sep 22. [Epub ahead of print]PMID: 19780792 [PubMed - as supplied by publisher]Related articles

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O.

Am J Hum Genet. 2009 Sep;85(3):394-400. Epub 2009 Aug 27. Erratum in: Am J Hum Genet. 2009 Sep;85(3):419. PMID: 19716111 [PubMed - indexed for MEDLINE]Related articles

Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease.

Bernardo ME, Avanzini MA, Ciccocioppo R, Perotti C, Cometa AM, Moretta A, Marconi M, Valli M, Novara F, Bonetti F, Zuffardi O, Maccario R, Corazza GR, Locatelli F.

Cytotherapy. 2009 Aug 13:1-12. [Epub ahead of print]PMID: 19680995 [PubMed - as supplied by publisher]Related articles

High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma.

Novara F, Arcaini L, Merli M, Passamonti F, Zibellini S, Rizzi S, Rattotti S, Rumi E, Pascutto C, Vetro A, Astori C, Boveri E, Lucioni M, Paulli M, Zuffardi O, Lazzarino M.

Hum Pathol. 2009 Nov;40(11):1628-37. Epub 2009 Aug 3.PMID: 19647853 [PubMed - indexed for MEDLINE]Related articles

The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma.

Gimelli S, Beri S, Drabkin HA, Gambini C, Gregorio A, Fiorio P, Zuffardi O, Gemmill RM, Giorda R, Gimelli G.

Mol Cancer. 2009 Jul 30;8:52.PMID: 19642973 [PubMed - indexed for MEDLINE]Related articlesFree article

Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker.

Piaggio G, Rosti V, Corselli M, Bertolotti F, Bergamaschi G, Pozzi S, Imperiale D, Chiavarina B, Bonetti E, Novara F, Sessarego M, Villani L, Garuti A, Massa M, Ghio R, Campanelli R, Bacigalupo A, Pecci A, Viarengo G, Zuffardi O, Frassoni F, Barosi G.

Blood. 2009 Oct 1;114(14):3127-30. Epub 2009 Jul 23.PMID: 19628707 [PubMed - in process]Related articles

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.

Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L.

Am J Med Genet A. 2009 Aug;149A(8):1846-9. No abstract available. PMID: 19610098 [PubMed - indexed for MEDLINE]Related articles

Inverted duplications deletions: underdiagnosed rearrangements??

Zuffardi O, Bonaglia M, Ciccone R, Giorda R.

Clin Genet. 2009 Jun;75(6):505-13. Review.PMID: 19508415 [PubMed - indexed for MEDLINE]Related articles

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Belligni EF, Biamino E, Molinatto C, Messa J, Pierluigi M, Faravelli F, Zuffardi O, Ferrero GB, Silengo MC.

Riv Ital Pediatr. 2009 Apr 27;35(1):9.PMID: 19490664 [PubMed - in process]Related articlesFree article

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.

Novara F, Beri S, Bernardo ME, Bellazzi R, Malovini A, Ciccone R, Cometa AM, Locatelli F, Giorda R, Zuffardi O.

Hum Genet. 2009 Oct;126(4):511-20. Epub 2009 May 30.PMID: 19484265 [PubMed - indexed for MEDLINE]Related articlesFree article

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.

Carboni I, Andreucci E, Caruso MR, Ciccone R, Zuffardi O, Genuardi M, Pela I, Giglio S.

Nephrol Dial Transplant. 2009 Sep;24(9):2734-8. Epub 2009 Apr 13.PMID: 19364879 [PubMed - in process]Related articles

Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?

Magnani C, Tedesco SA, Dallaglio S, Sommi M, Bacchini E, Vetro A, Zuffardi O, Bevilacqua G.

Am J Med Genet A. 2009 Feb 15;149A(4):737-41.PMID: 19288552 [PubMed - indexed for MEDLINE]Related articles

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.

Coppola A, Striano P, Gimelli S, Ciampa C, Santulli L, Caranci F, Zuffardi O, Gimelli G, Striano S, Zara F.

Brain Dev. 2009 Feb 10. [Epub ahead of print]PMID: 19216040 [PubMed - as supplied by publisher]Related articles

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R.

Neurology. 2009 Mar 3;72(9):784-92. Epub 2008 Dec 10.PMID: 19073947 [PubMed - indexed for MEDLINE]Related articles

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members.

Nucaro AL, Meloni M, Pisano T, Melis P, Rossi E, Rossino R, Corona S, Loi M, Achena F, Zuffardi O, Cianchetti C.

Am J Med Genet A. 2008 Dec 15;146A(24):3242-5. No abstract available. PMID: 19012344 [PubMed - indexed for MEDLINE]Related articles

A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics.

Vetro A, Iasci A, Dal Bello B, Rossi E, Messa J, Montanari L, Cesari S, Zuffardi O.

Prenat Diagn. 2008 Dec;28(12):1171-3. No abstract available. PMID: 19009516 [PubMed - indexed for MEDLINE]Related articles

Ring syndrome: still true?

Rossi E, Messa J, Zuffardi O.

J Med Genet. 2008 Nov;45(11):766-8. No abstract available. Erratum in: J Med Genet. 2009 Jan;46(1):72. PMID: 18978335 [PubMed - indexed for MEDLINE]Related articles

Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastoma.

Pezzolo A, Rossi E, Gimelli S, Parodi F, Negri F, Conte M, Pistorio A, Sementa A, Pistoia V, Zuffardi O, Gambini C.

Neuro Oncol. 2009 Apr;11(2):192-200. Epub 2008 Oct 15.PMID: 18923191 [PubMed - indexed for MEDLINE]Related articles

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).

Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, Mattina T, Ivy DD, Curfs LM, Mattson SN, Riley EP, Treier M, Grossfeld PD.

Neurogenetics. 2009 Apr;10(2):89-95. Epub 2008 Oct 15.PMID: 18855024 [PubMed - indexed for MEDLINE]Related articles

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.

Bonaglia MC, Giorda R, Beri S, Bigoni S, Sensi A, Baroncini A, Capucci A, De Agostini C, Gwilliam R, Deloukas P, Dunham I, Zuffardi O.

Eur J Hum Genet. 2009 Apr;17(4):426-33. Epub 2008 Oct 15.PMID: 18854866 [PubMed - indexed for MEDLINE]Related articlesFree article

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D.

Eur J Hum Genet. 2009 Apr;17(4):434-43. Epub 2008 Oct 15.PMID: 18854860 [PubMed - indexed for MEDLINE]Related articles

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally.

Maitz S, Gentilin B, Colli AM, Rizzuti T, Brandolisio E, Vetro A, Zuffardi O, Guerneri S, Lalatta F.

Prenat Diagn. 2008 Oct;28(10):978-80. No abstract available. PMID: 18821718 [PubMed - indexed for MEDLINE]Related articles

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Ciccone R, Zuffardi O.

Eur J Hum Genet. 2009 Feb;17(2):179-86. Epub 2008 Sep 24.PMID: 18813332 [PubMed - indexed for MEDLINE]Related articles

Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.

Tempesta S, Sollima D, Ghezzo S, Politi V, Sinigaglia B, Balducci F, Celso B, Restuccia A, Stefani M, Cernetti R, Marzocchi C, Ciccone R, Zuffardi O, Bovicelli L, Santarini L.

Eur J Med Genet. 2008 Nov-Dec;51(6):639-45. Epub 2008 Aug 12.PMID: 18757045 [PubMed - indexed for MEDLINE]Related articles

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea.

Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Giorda R, Toniolo D, Maraschio P, Zuffardi O.

Eur J Med Genet. 2008 Nov-Dec;51(6):631-8. Epub 2008 Jul 16.PMID: 18675947 [PubMed - indexed for MEDLINE]Related articles

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O.

Eur J Hum Genet. 2008 Dec;16(12):1443-9. Epub 2008 Jul 23.PMID: 18648397 [PubMed - indexed for MEDLINE]Related articles

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

Gianfrancesco F, Esposito T, Penco S, Maglione V, Liquori CL, Patrosso MC, Zuffardi O, Ciccodicola A, Marchuk DA, Squitieri F.

Neuroscience. 2008 Aug 13;155(2):345-9. Epub 2008 Jul 16.PMID: 18632209 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB.

J Med Genet. 2008 Nov;45(11):710-20. Epub 2008 Jul 15. Erratum in: J Med Genet. 2009 Aug;46(8):576. PMID: 18628315 [PubMed - indexed for MEDLINE]Related articles

Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome.

Rizzolio F, Pramparo T, Sala C, Zuffardi O, De Santis L, Rabellotti E, Calzi F, Fusi F, Bellazzi R, Toniolo D.

J Med Genet. 2009 Sep;46(9):585-92. Epub 2008 Jul 15.PMID: 18628312 [PubMed - in process]Related articles

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR.

Am J Hum Genet. 2008 Jul;83(1):106-11. Epub 2008 Jun 19.PMID: 18565486 [PubMed - indexed for MEDLINE]Related articlesFree article

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.

Pramparo T, de Gregori M, Gimelli S, Ciccone R, Frondizi D, Liehr T, Pellacani S, Masi G, Brovedani P, Zuffardi O, Guerrini R.

Am J Med Genet A. 2008 Jul 1;146A(13):1754-60.PMID: 18546282 [PubMed - indexed for MEDLINE]Related articles

A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.

Guanciali-Franchi P, Calabrese G, Morizio E, Gatta V, Palka C, Stuppia L, Zuffardi O.

Eur J Med Genet. 2008 May-Jun;51(3):239-44. Epub 2008 Feb 13.PMID: 18378203 [PubMed - indexed for MEDLINE]Related articles

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O.

Eur J Hum Genet. 2008 Aug;16(8):880-7. Epub 2008 Mar 12.PMID: 18337728 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).

Giorda R, Bonaglia MC, Milani G, Baroncini A, Spada F, Beri S, Menozzi G, Rusconi M, Zuffardi O.

Eur J Hum Genet. 2008 Aug;16(8):897-905. Epub 2008 Feb 27.PMID: 18301446 [PubMed - indexed for MEDLINE]Related articlesFree article

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE.

Nat Genet. 2008 Mar;40(3):322-8. Epub 2008 Feb 17.PMID: 18278044 [PubMed - indexed for MEDLINE]Related articlesFree article

Evolutionary and clinical neocentromeres: two faces of the same coin?

Capozzi O, Purgato S, Verdun di Cantogno L, Grosso E, Ciccone R, Zuffardi O, Della Valle G, Rocchi M.

Chromosoma. 2008 Aug;117(4):339-44. Epub 2008 Feb 15.PMID: 18274768 [PubMed - indexed for MEDLINE]Related articles

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.

Bonaglia MC, Giorda R, Beri S, Peters GB, Kirk EP, Hung D, Ciccone R, Gottardi G, Zuffardi O.

Eur J Med Genet. 2008 Mar-Apr;51(2):148-55. Epub 2007 Dec 8.PMID: 18226592 [PubMed - indexed for MEDLINE]Related articles

Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?

Rizzolio F, Bione S, Sala C, Tribioli C, Ciccone R, Zuffardi O, di Iorgi N, Maghnie M, Toniolo D.

PLoS One. 2008 Jan 23;3(1):e1460.PMID: 18213369 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB.

J Med Genet. 2008 Jun;45(6):346-54. Epub 2008 Jan 4.PMID: 18178631 [PubMed - indexed for MEDLINE]Related articles

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.

Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O.

J Med Genet. 2008 Mar;45(3):147-54. Epub 2007 Nov 15.PMID: 18006671 [PubMed - indexed for MEDLINE]Related articlesFree article

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.

Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P.

Clin Genet. 2007 Dec;72(6):506-16. Epub 2007 Oct 16.PMID: 17941886 [PubMed - indexed for MEDLINE]Related articles

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M, Zuffardi O, Scarano G.

Am J Med Genet A. 2007 Nov 15;143A(22):2733-7.PMID: 17937430 [PubMed - indexed for MEDLINE]Related articles

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

Concolino D, Rossi E, Strisciuglio P, Iembo MA, Giorda R, Ciccone R, Tenconi R, Zuffardi O.

J Med Genet. 2007 Oct;44(10):647-50.PMID: 17911656 [PubMed - indexed for MEDLINE]Related articles

Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms.

Bernardo ME, Zaffaroni N, Novara F, Cometa AM, Avanzini MA, Moretta A, Montagna D, Maccario R, Villa R, Daidone MG, Zuffardi O, Locatelli F.

Cancer Res. 2007 Oct 1;67(19):9142-9.PMID: 17909019 [PubMed - indexed for MEDLINE]Related articlesFree article

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O.

J Med Genet. 2007 Dec;44(12):750-62. Epub 2007 Aug 31.PMID: 17766364 [PubMed - indexed for MEDLINE]Related articlesFree article

Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13.

Torniero C, Zuffardi O, Darra F, Dalla Bernardina B.

Epilepsia. 2007 Nov;48(11):2177-80. Epub 2007 Jul 28.PMID: 17662064 [PubMed - indexed for MEDLINE]Related articles

Guidelines for molecular karyotyping in constitutional genetic diagnosis.

Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O.

Eur J Hum Genet. 2007 Nov;15(11):1105-14. Epub 2007 Jul 18. Review.PMID: 17637806 [PubMed - indexed for MEDLINE]Related articlesFree article

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G.

Eur J Med Genet. 2007 Jul-Aug;50(4):301-8. Epub 2007 May 21.PMID: 17591464 [PubMed - indexed for MEDLINE]Related articles