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Items: 1 to 50 of 80

1.

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Lee RG, Sedghi M, Salari M, Shearwood AJ, Stentenbach M, Kariminejad A, Goullee H, Rackham O, Laing NG, Tajsharghi H, Filipovska A.

Neurol Genet. 2018 Oct 5;4(5):e276. doi: 10.1212/NXG.0000000000000276. eCollection 2018 Oct.

PMID:
30338296
2.

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.

Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J.

Hum Mutat. 2018 Oct;39(10):1349-1354. doi: 10.1002/humu.23592. Epub 2018 Aug 3.

PMID:
30016581
3.

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG.

Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16.

PMID:
30013181
4.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F.

Hum Mol Genet. 2018 Oct 15;27(20):3475-3487. doi: 10.1093/hmg/ddy234.

PMID:
29931299
5.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group.

Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21.

6.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A.

Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30.

PMID:
29605658
7.

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

Kariminejad A, Barzgar M, Bozorgmehr B, Keshavarz E, Kariminejad MH, S'Aulis D, Rizzo WB.

Eur J Med Genet. 2018 Mar;61(3):139-144. doi: 10.1016/j.ejmg.2017.11.006. Epub 2017 Nov 26.

PMID:
29183715
8.

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, Kajbafzadeh AM, Aristodemou S, Liu L, McGrath JA, Ertel A, Londin E, Kariminejad A, Zeinali S, Fortina P, Uitto J.

Matrix Biol. 2018 Mar;66:22-33. doi: 10.1016/j.matbio.2017.11.003. Epub 2017 Nov 11.

PMID:
29138120
9.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019.

10.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, Najmabadi H, Laing NG, Tajsharghi H.

Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230.

PMID:
29053766
11.

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

Edizadeh M, Vazehan R, Javadi F, Dehdahsi S, Fadaee M, Faraji Zonooz M, Parsimehr E, Ahangari F, Abolhassani A, Kalhor Z, Fattahi Z, Beheshtian M, Kariminejad A, Akbari MR, Najmabadi H, Nafissi S.

Arch Iran Med. 2017 Sep;20(9):617-620. doi: 0172009/AIM.0010.

12.

Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis.

Garg A, Bansal M, Gotoh N, Feng GS, Zhong J, Wang F, Kariminejad A, Brooks S, Zhang X.

PLoS Genet. 2017 Oct 13;13(10):e1007047. doi: 10.1371/journal.pgen.1007047. eCollection 2017 Oct.

13.

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.

De Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, Chung HB, David A, Kariminejad A, Foresti M, Gallottini M, Isidor B, Marchegiani S, Martins F, Mazzanti L, Roche N, Singh A, Stevens C, Suga K, Zenker M, Hennekam RC.

Mol Syndromol. 2017 Jun;8(4):172-178. doi: 10.1159/000472408. Epub 2017 Apr 27.

14.

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M.

Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15.

15.

Juvenile nephronophthisis and dysthyroidism: a rare association.

Amiri FS, Kariminejad A.

CEN Case Rep. 2017 May;6(1):98-104. doi: 10.1007/s13730-017-0252-7. Epub 2017 Mar 13.

16.

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E.

Int J Mol Sci. 2017 Mar 15;18(3). pii: E635. doi: 10.3390/ijms18030635. Review.

17.

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.

Najafi K, Kariminejad R, Hosseini K, Moshtagh A, Abbassi GM, Sadatian N, Bazrgar M, Kariminejad A, Kariminejad MH.

Case Rep Genet. 2017;2017:2706098. doi: 10.1155/2017/2706098. Epub 2017 Jan 4.

18.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS.

Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14.

19.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.

Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5.

20.

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM.

J Hum Genet. 2017 Apr;62(4):465-471. doi: 10.1038/jhg.2016.151. Epub 2016 Dec 22.

21.

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

Reis LM, Tyler RC, Weh E, Hendee KE, Kariminejad A, Abdul-Rahman O, Ben-Omran T, Manning MA, Yesilyurt A, McCarty CA, Kitchner TE, Costakos D, Semina EV.

Mol Vis. 2016 Oct 17;22:1229-1238. eCollection 2016.

22.

Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.

Beheshtian M, Izadi N, Kriegshauser G, Kahrizi K, Mehr EP, Rostami M, Hosseini M, Azad M, Montajabiniat M, Kariminejad A, Nemeth S, Oberkanins C, Najmabadi H.

J Genet. 2016 Sep;95(3):667-74.

23.

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.

Kariminejad A, Schöls L, Schüle R, Tonekaboni SH, Abolhassani A, Fadaee M, Rosti RO, Gleeson JG.

Eur J Paediatr Neurol. 2016 Sep;20(5):782-7. doi: 10.1016/j.ejpn.2016.05.013. Epub 2016 Jun 2.

24.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Kariminejad A, Almadani N, Khoshaeen A, Olsson B, Moslemi AR, Tajsharghi H.

BMC Genet. 2016 May 31;17(1):71. doi: 10.1186/s12863-016-0382-5.

25.

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari MR, Kahrizi K, Kariminejad A, Najmabadi H.

Clin Genet. 2017 Mar;91(3):386-402. doi: 10.1111/cge.12810. Epub 2016 Jul 21.

PMID:
27234031
26.

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

Fadaee M, Kariminejad A, Fattahi Z, Nafissi S, Godarzi HR, Beheshtian M, Vazehan R, Akbari MR, Kahrizi K, Najmabadi H.

Neuromuscul Disord. 2016 Apr-May;26(4-5):277-82. doi: 10.1016/j.nmd.2016.02.003. Epub 2016 Feb 15.

PMID:
27020652
27.

Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.

Faraji Zonooz M, Sabbagh-Kermani F, Fattahi Z, Fadaee M, Akbari MR, Amiri R, Vahidnezhad H, Uitto J, Najmabadi H, Kariminejad A.

J Invest Dermatol. 2016 Jun;136(6):1283-6. doi: 10.1016/j.jid.2016.02.801. Epub 2016 Mar 9. No abstract available.

28.

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.

Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A.

Arthritis Rheumatol. 2016 Sep;68(9):2323-7. doi: 10.1002/art.39659. Epub 2016 Jul 29.

29.

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

Kariminejad A, Ghaderi-Sohi S, Hossein-Nejad Nedai H, Varasteh V, Moslemi AR, Tajsharghi H.

BMC Musculoskelet Disord. 2016 Mar 1;17:109. doi: 10.1186/s12891-016-0947-5.

30.

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

Tafakhori A, Yu Jin Ng A, Tohari S, Venkatesh B, Lee H, Eskin A, Nelson SF, Bonnard C, Reversade B, Kariminejad A.

Arch Iran Med. 2016 Feb;19(2):87-91. doi: 0161902/AIM.004.

31.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G.

Orphanet J Rare Dis. 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0.

32.

Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran.

Barzegar M, Asadi-Kani Z, Mozafari N, Vahidnezhad H, Kariminejad A, Toossi P.

Int J Dermatol. 2015 Oct;54(10):e416-23. doi: 10.1111/ijd.12804. Epub 2015 Jul 28.

PMID:
26220012
33.

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Kariminejad A, Nafissi S, Nilipoor Y, Tavasoli A, Van Veldhoven PP, Bonnard C, Ng YT, Majoie CB, Reversade B, Hennekam RC.

Am J Med Genet A. 2015 Nov;167A(11):2508-15. doi: 10.1002/ajmg.a.37248. Epub 2015 Jul 20.

PMID:
26192890
34.

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV.

Eur J Hum Genet. 2016 Apr;24(4):535-41. doi: 10.1038/ejhg.2015.155. Epub 2015 Jul 1.

35.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC.

Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25.

36.

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.

Norgett EE, Yii A, Blake-Palmer KG, Sharifian M, Allen LE, Najafi A, Kariminejad A, Karet Frankl FE.

BMC Med Genet. 2015 Jun 13;16:38. doi: 10.1186/s12881-015-0182-1.

37.

Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.

Rostami P, Valizadegan S, Ghalandary M, Mehrjouy MM, Esmail-Nia G, Khalili S, Shahmoradi SS, Imanian H, Hadavi V, Ghaderi-Sohi S, Almadani N, Afroozan F, Kariminejad A, Kariminejad R, Najmabadi H.

Arch Iran Med. 2015 May;18(5):296-303. doi: 0151805/AIM.007.

38.

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.

Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV.

PLoS Genet. 2015 Feb 26;11(2):e1005002. doi: 10.1371/journal.pgen.1005002. eCollection 2015.

39.

Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

Fattahi Z, Kahrizi K, Nafissi S, Fadaee M, Abedini SS, Kariminejad A, Akbari MR, Najmabadi H.

Arch Iran Med. 2015 Jan;18(1):60-4. doi: 0151801/AIM.0014.

40.

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.

Kariminejad A, Rajaee A, Ashrafi MR, Alizadeh H, Tonekaboni SH, Malamiri RA, Ghofrani M, Karimzadeh P, Mohammadi MM, Baghalshooshtari A, Bozorgmehr B, Kariminejad MH, Postma N, Abbink TE, van der Knaap MS.

Eur J Med Genet. 2015 Feb;58(2):71-4. doi: 10.1016/j.ejmg.2014.12.004. Epub 2014 Dec 11.

PMID:
25497041
41.

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Müller R, Hoffmann I, Cormier-Daire V, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmüller J, Höhne W, Hurles ME, Noegel AA, Baig SM, Nürnberg P, Jackson AP.

Nat Genet. 2014 Dec;46(12):1283-1292. doi: 10.1038/ng.3122. Epub 2014 Oct 26.

42.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M.

Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21.

43.

Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population.

Loghmani Khouzani H, Kariminejad A, Zamani G, Ghalandary M, Bozorgmehr B, Amirsalari S, Mojahedi F, Tonekaboni SH, Kariminejad R, Najmabadi H.

Arch Iran Med. 2014 Jul;17(7):471-4. doi: 0141707/AIM.004.

44.

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

Fattahi Z, Rostami P, Najmabadi A, Mohseni M, Kahrizi K, Akbari MR, Kariminejad A, Najmabadi H.

J Hum Genet. 2014 Jul;59(7):368-75. doi: 10.1038/jhg.2014.28. Epub 2014 May 22.

PMID:
24849935
45.

Characterizing a cohort of α-thalassemia couples collected during screening for hemoglobinopathies: 14 years of an Iranian experience.

Hafezi-Nejad N, Khosravi M, Bayat N, Kariminejad A, Hadavi V, Oberkanins C, Azarkeivan A, Najmabadi H.

Hemoglobin. 2014;38(3):153-7. doi: 10.3109/03630269.2014.909365.

PMID:
24826790
46.

Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3.

Kariminejad A, Barzegar M, Abdollahimajd F, Pramanik R, McGrath JA.

Clin Exp Dermatol. 2014 Jun;39(4):492-5. doi: 10.1111/ced.12318. Epub 2014 Apr 23.

PMID:
24758389
47.

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AAB, Hennekam RC.

J Invest Dermatol. 2014 Sep;134(9):2331-2338. doi: 10.1038/jid.2014.191. Epub 2014 Apr 16.

48.

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.

Kariminejad A, Bozorgmehr B, Alizadeh H, Ghaderi-Sohi S, Toksoy G, Uyguner ZO, Kayserili H.

Am J Med Genet A. 2014 May;164A(5):1322-7. doi: 10.1002/ajmg.a.36008. Epub 2014 Mar 25. No abstract available.

PMID:
24668755
49.

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

Bozorgmehr B, Kariminejad A, Nafissi S, Jebelli B, Andoni U, Gartioux C, Ledeuil C, Allamand V, Richard P, Kariminejad MH.

Iran J Child Neurol. 2013 Summer;7(3):15-22.

50.

The genetic basis of DOORS syndrome: an exome-sequencing study.

Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM.

Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29.

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