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Search life-sciences literature (45,103,589 articles, preprints and more)

Suggested authors matching "AUTH:Nigro V" with an ORCID

Vincenzo Nigro
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113
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4,105
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Valentina Nigro
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2
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109
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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, [...] Nordgren A
Nat Genet, 56(11):2287-2294, 01 Nov 2024
Cited by: 1 article | PMID: 39433890
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Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, Briganti M, Sancricca C, Bruschi F, Ardissone A, Masson R, Gallone A, Maggi L, Picillo E, Politano L, Petrosino A, Vianello S, Penzo M, Villa M, [...] Pegoraro E
Brain, awae358, 05 Nov 2024
Cited by: 0 articles | PMID: 39499670
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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, [...] Laurie S
NPJ Genom Med, 9(1):49, 26 Oct 2024
Cited by: 0 articles | PMID: 39461972 | PMCID: PMC11513043
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Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.
Nosrati MSS, Doustmohammadi A, Severino M, Romano F, Zafari M, Nemati AH, Velmans C, Netzer C, Breuer J, Broekaert IJ, Joachim A, Almasri N, Kruer MC, Skidmore P, Bisarad P, Hoque J, Bakhtiari S, Torella A, Nigro V, [...] Scala M
Clin Genet, 21 Sep 2024
Cited by: 0 articles | PMID: 39305096
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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, [...] De Luca A
Genet Med, 26(11):101241, 10 Aug 2024
Cited by: 0 articles | PMID: 39140257
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Influence of a Solid Surface on PNIPAM Microgel Films.
Nigro V, Angelini R, Buratti E, Colantonio C, D'Amato R, Dinelli F, Franco S, Limosani F, Montereali RM, Nichelatti E, Piccinini M, Vincenti MA, Ruzicka B
Gels, 10(7):473, 18 Jul 2024
Cited by: 0 articles | PMID: 39057496 | PMCID: PMC11276228
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Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
Peduto C, Cappuccio G, Zeuli R, Zanobio M, Torella A, Alkuraya FS, Joss S, Daolio C, Spinelli AM, Zampieri S, TUDP Study Group, Nigro V, Brunetti-Pierri N
Am J Med Genet A, 194(11):e63713, 26 Jun 2024
Cited by: 0 articles | PMID: 38924631
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Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).
Ellwanger K, Brill JA, de Boer E, Efthymiou S, Elgersma Y, Icmat M, Lecoquierre F, Lobato AG, Morleo M, Ori M, Schaffer AE, Vitobello A, Wells S, Yalcin B, Zhai RG, Sturm M, Zurek B, Graessner H, Bermejo-Sánchez E, [...] Riess O
Lab Anim (NY), 53(7):161-165, 01 Jul 2024
Cited by: 0 articles | PMID: 38914824 | PMCID: PMC11216991
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Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.
Demidov G, Laurie S, Torella A, Piluso G, Scala M, Morleo M, Nigro V, Graessner H, Banka S, Solve-RD consortium, Lohmann K, Ossowski S
Eur J Hum Genet, 32(8):998-1004, 31 May 2024
Cited by: 1 article | PMID: 38822122 | PMCID: PMC11291474
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Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.
Onore ME, Picillo E, D'Ambrosio P, Morra S, Nigro V, Politano L
Biomolecules, 14(4):507, 22 Apr 2024
Cited by: 0 articles | PMID: 38672523 | PMCID: PMC11048520
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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, [...] Robertson SP
Am J Hum Genet, 111(4):729-741, 01 Apr 2024
Cited by: 0 articles | PMID: 38579670 | PMCID: PMC11023914
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Visible proton Bragg curve imaging by colour centre photoluminescence in radiation detectors based on lithium fluoride films on silica.
Montereali RM, Nigro V, Piccinini M, Vincenti MA, Nenzi P, Ronsivalle C, Nichelatti E
J Phys Condens Matter, 36(21), 27 Feb 2024
Cited by: 0 articles | PMID: 38364273
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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, [...] Hilger AC
NPJ Genom Med, 9(1):18, 01 Mar 2024
Cited by: 1 article | PMID: 38429302 | PMCID: PMC10907620
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Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, [...] Meisler MH
Genet Med, 26(5):101097, 05 Feb 2024
Cited by: 0 articles | PMID: 38334070
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A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.
Picillo E, Onore ME, Passamano L, Nigro V, Politano L
Acta Myol, 43(1):21-26, 21 Feb 2024
Cited by: 0 articles | PMID: 38586167 | PMCID: PMC10997040
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Advanced spectroscopic investigation of colour centres in LiF crystals irradiated with monochromatic hard x-rays.
Vincenti MA, Montereali RM, Bonfigli F, Nichelatti E, Nigro V, Piccinini M, Koenig M, Mabey P, Rigon G, Dabrowski HJ, Benkadoum Y, Mercere P, Da Silva P, Pikuz T, Ozaki N, Makarov S, Pikuz S, Albertazzi B
J Phys Condens Matter, 36(20), 16 Feb 2024
Cited by: 0 articles | PMID: 38330460
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DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, Grandis M, Falace A, Torella A, Picillo E, Onore ME, Politano L, Nigro V, Innes AM, Barresi R, Bruno C, Zara F, Fiorillo C, Scala M
Eur J Hum Genet, 32(3):342-349, 04 Jan 2024
Cited by: 1 article | PMID: 38177406
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, [...] Hakonarson H
J Clin Invest, 134(1):e171235, 02 Jan 2024
Cited by: 6 articles | PMID: 37962958 | PMCID: PMC10760965
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Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
De Falco A, Karali M, Criscuolo C, Testa F, Barillari MR, Scarpato M, Gaudieri V, Cuocolo A, Russo A, Nigro V, Simonelli F, Banfi S, Brunetti-Pierri N
Am J Med Genet A, 194(5):e63517, 27 Dec 2023
Cited by: 1 article | PMID: 38149346
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A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.
Onore ME, Caiazza M, Farina A, Scarano G, Budillon A, Borrelli RN, Limongelli G, Nigro V, Piluso G
Genes (Basel), 15(1):32, 25 Dec 2023
Cited by: 0 articles | PMID: 38254922 | PMCID: PMC10815364
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Sarcomere level mechanics of the fast skeletal muscle of the medaka fish larva.
Marcello M, Cetrangolo V, Morotti I, Squarci C, Caremani M, Reconditi M, Savarese M, Bianco P, Piazzesi G, Lombardi V, Udd B, Conte I, Nigro V, Linari M
Am J Physiol Cell Physiol, 326(2):C632-C644, 25 Dec 2023
Cited by: 2 articles | PMID: 38145303
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Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, [...] Sisodiya SM
Epilepsia, 65(3):779-791, 23 Dec 2023
Cited by: 2 articles | PMID: 38088023
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Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, [...] Wells MF
Genet Med, 26(4):101057, 27 Dec 2023
Cited by: 1 article | PMID: 38158856
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An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, [...] Solve-RD consortium
Gigascience, 13:giae058, 01 Jan 2024
Cited by: 0 articles | PMID: 39302238 | PMCID: PMC11413801
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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, [...] Westlake CJ
Nat Commun, 15(1):365, 08 Jan 2024
Cited by: 0 articles | PMID: 38191484 | PMCID: PMC10774338
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1-25 of 340 results

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Search life-sciences literature (45,103,589 articles, preprints and more)

Suggested authors matching "AUTH:Nigro V" with an ORCID

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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Influence of a Solid Surface on PNIPAM Microgel Films.

Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.

Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.

Visible proton Bragg curve imaging by colour centre photoluminescence in radiation detectors based on lithium fluoride films on silica.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.

Advanced spectroscopic investigation of colour centres in LiF crystals irradiated with monochromatic hard x-rays.

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.

Sarcomere level mechanics of the fast skeletal muscle of the medaka fish larva.

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

An interconnected data infrastructure to support large-scale rare disease research.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

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