Etiology
Cammarata-Scalisi F,
Diociaiuti A,
Cárdenas Tadich A,
Sandoval X,
Oranges T,
Filippeschi C,
Araya Castillo M,
Willoughby CE,
Cerri A,
Gervasini C,
Callea M
Ital J Dermatol Venerol
2023 Aug;158(4):316-320.
Epub 2023 Jun 7
doi: 10.23736/S2784-8671.23.07547-3.
PMID: 37282850
Kennedy J,
Goudie D,
Blair E,
Chandler K,
Joss S,
McKay V,
Green A,
Armstrong R,
Lees M,
Kamien B,
Hopper B,
Tan TY,
Yap P,
Stark Z,
Okamoto N,
Miyake N,
Matsumoto N,
Macnamara E,
Murphy JL,
McCormick E,
Hakonarson H,
Falk MJ,
Li D,
Blackburn P,
Klee E,
Babovic-Vuksanovic D,
Schelley S,
Hudgins L,
Kant S,
Isidor B,
Cogne B,
Bradbury K,
Williams M,
Patel C,
Heussler H,
Duff-Farrier C,
Lakeman P,
Scurr I,
Kini U,
Elting M,
Reijnders M,
Schuurs-Hoeijmakers J,
Wafik M,
Blomhoff A,
Ruivenkamp CAL,
Nibbeling E,
Dingemans AJM,
Douine ED,
Nelson SF;
DDD Study,,
Hempel M,
Bierhals T,
Lessel D,
Johannsen J,
Arboleda VA,
Newbury-Ecob R
Genet Med
2019 Apr;21(4):850-860.
Epub 2018 Sep 24
doi: 10.1038/s41436-018-0259-2.
PMID: 30245513Free PMC Article
Niturad CE,
Lev D,
Kalscheuer VM,
Charzewska A,
Schubert J,
Lerman-Sagie T,
Kroes HY,
Oegema R,
Traverso M,
Specchio N,
Lassota M,
Chelly J,
Bennett-Back O,
Carmi N,
Koffler-Brill T,
Iacomino M,
Trivisano M,
Capovilla G,
Striano P,
Nawara M,
Rzonca S,
Fischer U,
Bienek M,
Jensen C,
Hu H,
Thiele H,
Altmüller J,
Krause R,
May P,
Becker F;
EuroEPINOMICS Consortium,
Balling R,
Biskup S,
Haas SA,
Nürnberg P,
van Gassen KLI,
Lerche H,
Zara F,
Maljevic S,
Leshinsky-Silver E
Brain
2017 Nov 1;140(11):2879-2894.
doi: 10.1093/brain/awx236.
PMID: 29053855
de Koning TJ
J Inherit Metab Dis
2017 Jul;40(4):609-620.
Epub 2017 Jun 26
doi: 10.1007/s10545-017-0063-1.
PMID: 28653176Free PMC Article
Chistiakov DA
Adv Exp Med Biol
2010;685:175-85.
doi: 10.1007/978-1-4419-6448-9_16.
PMID: 20687505
Diagnosis
Cammarata-Scalisi F,
Diociaiuti A,
Cárdenas Tadich A,
Sandoval X,
Oranges T,
Filippeschi C,
Araya Castillo M,
Willoughby CE,
Cerri A,
Gervasini C,
Callea M
Ital J Dermatol Venerol
2023 Aug;158(4):316-320.
Epub 2023 Jun 7
doi: 10.23736/S2784-8671.23.07547-3.
PMID: 37282850
Inamori KI,
Inokuchi JI
Int J Mol Sci
2022 May 11;23(10)
doi: 10.3390/ijms23105368.
PMID: 35628171Free PMC Article
Di Candia F,
Fontana P,
Paglia P,
Falco M,
Rosano C,
Piscopo C,
Cappuccio G,
Siano MA,
De Brasi D,
Mandato C,
De Maggio I,
Squeo GM,
Monica MD,
Scarano G,
Lonardo F,
Strisciuglio P,
Merla G,
Melis D
Eur J Pediatr
2022 Jan;181(1):171-187.
Epub 2021 Jul 7
doi: 10.1007/s00431-021-04108-w.
PMID: 34232366Free PMC Article
Kennedy J,
Goudie D,
Blair E,
Chandler K,
Joss S,
McKay V,
Green A,
Armstrong R,
Lees M,
Kamien B,
Hopper B,
Tan TY,
Yap P,
Stark Z,
Okamoto N,
Miyake N,
Matsumoto N,
Macnamara E,
Murphy JL,
McCormick E,
Hakonarson H,
Falk MJ,
Li D,
Blackburn P,
Klee E,
Babovic-Vuksanovic D,
Schelley S,
Hudgins L,
Kant S,
Isidor B,
Cogne B,
Bradbury K,
Williams M,
Patel C,
Heussler H,
Duff-Farrier C,
Lakeman P,
Scurr I,
Kini U,
Elting M,
Reijnders M,
Schuurs-Hoeijmakers J,
Wafik M,
Blomhoff A,
Ruivenkamp CAL,
Nibbeling E,
Dingemans AJM,
Douine ED,
Nelson SF;
DDD Study,,
Hempel M,
Bierhals T,
Lessel D,
Johannsen J,
Arboleda VA,
Newbury-Ecob R
Genet Med
2019 Apr;21(4):850-860.
Epub 2018 Sep 24
doi: 10.1038/s41436-018-0259-2.
PMID: 30245513Free PMC Article
de Koning TJ
J Inherit Metab Dis
2017 Jul;40(4):609-620.
Epub 2017 Jun 26
doi: 10.1007/s10545-017-0063-1.
PMID: 28653176Free PMC Article
Therapy
Amodeo ME,
Inzaghi E,
Deodati A,
Cianfarani S
Mol Genet Genomic Med
2021 May;9(5):e1644.
Epub 2021 Mar 31
doi: 10.1002/mgg3.1644.
PMID: 33788412Free PMC Article
Hu X,
Wu D,
Li Y,
Wei L,
Li X,
Qin M,
Li H,
Li M,
Chen S,
Gong C,
Shen Y
BMC Med Genomics
2020 Dec 4;13(1):181.
doi: 10.1186/s12920-020-00831-9.
PMID: 33276791Free PMC Article
Beck BB,
van Spronsen F,
Diepstra A,
Berger RM,
Kömhoff M
Pediatr Nephrol
2017 May;32(5):733-741.
Epub 2016 Jun 11
doi: 10.1007/s00467-016-3399-0.
PMID: 27289364Free PMC Article
Domizio S,
Pallotta R,
Romanelli A,
Puglielli C,
Pollice R,
Casacchia M,
Conte E,
Domizio R,
Sabatino G
Int J Immunopathol Pharmacol
2006 Apr-Jun;19(2):439-42.
doi: 10.1177/039463200601900220.
PMID: 16831310
Verhoeven WM,
Moog U,
Wagemans AM,
Tuinier S
Genet Couns
2002;13(3):297-301.
PMID: 12416637
Prognosis
Vitrac A,
Leblond CS,
Rolland T,
Cliquet F,
Mathieu A,
Maruani A,
Delorme R,
Schön M,
Grabrucker AM,
van Ravenswaaij-Arts C,
Phelan K,
Tabet AC,
Bourgeron T
Eur J Med Genet
2023 May;66(5):104732.
Epub 2023 Feb 21
doi: 10.1016/j.ejmg.2023.104732.
PMID: 36822569
Bergamini LL,
Spineli-Silva S,
Félix TM,
Gil-da-Silva-Lopes VL,
Vieira TP,
Ribeiro EM,
Xavier AC,
Lustosa-Mendes E,
Fontes MÍB,
Monlleó IL
Congenit Anom (Kyoto)
2021 Sep;61(5):148-158.
Epub 2021 May 10
doi: 10.1111/cga.12422.
PMID: 33900643
Mameli C,
Zichichi G,
Mahmood N,
Elalaoui SC,
Mirza A,
Dharmaraj P,
Burrone M,
Cattaneo E,
Sheth J,
Gandhi A,
Kochar GS,
Alkuraya FS,
Kabra M,
Mercurio G,
Zuccotti G
Orphanet J Rare Dis
2020 Apr 16;15(1):93.
doi: 10.1186/s13023-020-01373-0.
PMID: 32299476Free PMC Article
Bernardini L,
Radio FC,
Acquaviva F,
Gorgone C,
Postorivo D,
Torres B,
Alesi V,
Magliozzi M,
Lonardo F,
Monica MD,
Nardone AM,
Cesario C,
Mattina T,
Scarano G,
Dallapiccola B,
Digilio MC,
Novelli A
Am J Med Genet A
2018 Nov;176(11):2501-2508.
Epub 2018 Sep 23
doi: 10.1002/ajmg.a.40512.
PMID: 30244530
Bahi-Buisson N,
Poirier K,
Fourniol F,
Saillour Y,
Valence S,
Lebrun N,
Hully M,
Bianco CF,
Boddaert N,
Elie C,
Lascelles K,
Souville I;
LIS-Tubulinopathies Consortium,
Beldjord C,
Chelly J
Brain
2014 Jun;137(Pt 6):1676-700.
doi: 10.1093/brain/awu082.
PMID: 24860126
Clinical prediction guides
Miroševič Š,
Khandelwal S,
Sušjan P,
Žakelj N,
Gosar D,
Forstnerič V,
Lainšček D,
Jerala R,
Osredkar D
Int J Mol Sci
2022 Oct 19;23(20)
doi: 10.3390/ijms232012564.
PMID: 36293418Free PMC Article
Di Candia F,
Fontana P,
Paglia P,
Falco M,
Rosano C,
Piscopo C,
Cappuccio G,
Siano MA,
De Brasi D,
Mandato C,
De Maggio I,
Squeo GM,
Monica MD,
Scarano G,
Lonardo F,
Strisciuglio P,
Merla G,
Melis D
Eur J Pediatr
2022 Jan;181(1):171-187.
Epub 2021 Jul 7
doi: 10.1007/s00431-021-04108-w.
PMID: 34232366Free PMC Article
Kummeling J,
Stremmelaar DE,
Raun N,
Reijnders MRF,
Willemsen MH,
Ruiterkamp-Versteeg M,
Schepens M,
Man CCO,
Gilissen C,
Cho MT,
McWalter K,
Sinnema M,
Wheless JW,
Simon MEH,
Genetti CA,
Casey AM,
Terhal PA,
van der Smagt JJ,
van Gassen KLI,
Joset P,
Bahr A,
Steindl K,
Rauch A,
Keller E,
Raas-Rothschild A,
Koolen DA,
Agrawal PB,
Hoffman TL,
Powell-Hamilton NN,
Thiffault I,
Engleman K,
Zhou D,
Bodamer O,
Hoefele J,
Riedhammer KM,
Schwaibold EMC,
Tasic V,
Schubert D,
Top D,
Pfundt R,
Higgs MR,
Kramer JM,
Kleefstra T
Mol Psychiatry
2021 Jun;26(6):2013-2024.
Epub 2020 Apr 28
doi: 10.1038/s41380-020-0725-5.
PMID: 32346159
de Koning TJ
J Inherit Metab Dis
2017 Jul;40(4):609-620.
Epub 2017 Jun 26
doi: 10.1007/s10545-017-0063-1.
PMID: 28653176Free PMC Article
Tohyama J,
Nakashima M,
Nabatame S,
Gaik-Siew C,
Miyata R,
Rener-Primec Z,
Kato M,
Matsumoto N,
Saitsu H
J Hum Genet
2015 Apr;60(4):167-73.
Epub 2015 Jan 29
doi: 10.1038/jhg.2015.5.
PMID: 25631096