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Results: 1 to 20 of 131

1.

TCTN3 mutations cause Mohr-Majewski syndrome.

Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attié-Bitach T.

Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017.

PMID:
22883145
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Overlapping phenotypes in OFD type II and OFD type VI: report of two cases.

Panigrahi I, Das RR, Kulkarni KP, Marwaha RK.

Clin Dysmorphol. 2013 Jul;22(3):109-14. doi: 10.1097/MCD.0b013e32835fe161.

PMID:
23459408
[PubMed - indexed for MEDLINE]
3.

C5orf42 is the major gene responsible for OFD syndrome type VI.

Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T.

Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1.

PMID:
24178751
[PubMed - indexed for MEDLINE]
4.

Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study.

Moerman P, Fryns JP.

Genet Couns. 1998;9(1):39-43.

PMID:
9555586
[PubMed - indexed for MEDLINE]
5.

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.

Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R, Al Harassi S, Alkuraya FS.

Am J Hum Genet. 2013 Sep 5;93(3):555-60. doi: 10.1016/j.ajhg.2013.07.012. Epub 2013 Aug 22.

PMID:
23972372
[PubMed - indexed for MEDLINE]
Free PMC Article
6.
7.

Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea.

Steichen-Gersdorf E, Gassner I, Covi B, Fischer H.

Clin Dysmorphol. 1994 Jul;3(3):245-50.

PMID:
7981861
[PubMed - indexed for MEDLINE]
8.

Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.

Silengo MC, Bell GL, Biagioli M, Franceschini P.

Clin Genet. 1987 May;31(5):331-6.

PMID:
3608220
[PubMed - indexed for MEDLINE]
9.

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E.

Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4.

PMID:
22236771
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.

Stoll C, Sauvage P.

Ann Genet. 2002 Apr-Jun;45(2):59-62.

PMID:
12119212
[PubMed - indexed for MEDLINE]
11.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T.

Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8.

PMID:
21552264
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Oro-facial-digital syndrome type II.

Kalyan M, Kanitkar S, John R, Gireesh G, Bhate A, Mithun M.

J Assoc Physicians India. 2012 Oct;60:50-2.

PMID:
23777026
[PubMed - indexed for MEDLINE]
13.

Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings.

Kahl P, Heukamp LC, Buettner R, Friedrichs N, Roesing B, Knopfle G.

Pediatr Dev Pathol. 2007 May-Jun;10(3):239-43.

PMID:
17535085
[PubMed - indexed for MEDLINE]
14.

Oral-facial-digital syndrome: report on a transitional type between the Mohr and Váradi syndromes in a fetus.

Camera G, Marasini M, Pozzolo S, Camera A.

Am J Med Genet. 1994 Nov 1;53(2):196-8.

PMID:
7856648
[PubMed - indexed for MEDLINE]
15.

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, García-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF.

Nat Genet. 2011 Jul 3;43(8):776-84. doi: 10.1038/ng.891.

PMID:
21725307
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings].

Degner D, Bleich S, Riegel A, Rüther E.

Fortschr Neurol Psychiatr. 1999 Dec;67(12):525-8. German.

PMID:
10683749
[PubMed - indexed for MEDLINE]
17.

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.

Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.

PMID:
18546297
[PubMed - indexed for MEDLINE]
18.

Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.

Adly N, Alhashem A, Ammari A, Alkuraya FS.

Hum Mutat. 2014 Jan;35(1):36-40. doi: 10.1002/humu.22477. Epub 2013 Nov 25.

PMID:
24285566
[PubMed - indexed for MEDLINE]
19.

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, Johnson CA.

Hum Mol Genet. 2013 Apr 1;22(7):1358-72. doi: 10.1093/hmg/dds546. Epub 2013 Jan 2.

PMID:
23283079
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.

Aguilar A, Meunier A, Strehl L, Martinovic J, Bonniere M, Attie-Bitach T, Encha-Razavi F, Spassky N.

Proc Natl Acad Sci U S A. 2012 Oct 16;109(42):16951-6. doi: 10.1073/pnas.1201408109. Epub 2012 Oct 1.

PMID:
23027964
[PubMed - indexed for MEDLINE]
Free PMC Article
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