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Items: 1 to 20 of 101

1.

Report of second case and clinical and molecular characterization of Eiken syndrome.

Moirangthem A, Narayanan DL, Jacob P, Nishimura G, Mortier G, Girisha KM.

Clin Genet. 2018 Nov;94(5):457-460. doi: 10.1111/cge.13413. Epub 2018 Jul 27.

PMID:
29987841
2.

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.

Bayat A, Fijalkowski I, Andersen T, Abdulmunem SA, van den Ende J, Van Hul W.

Am J Med Genet A. 2016 Jun;170(6):1479-84. doi: 10.1002/ajmg.a.37626. Epub 2016 Mar 20.

PMID:
26994744
3.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I.

J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19.

PMID:
27193221
4.

A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.

Cao L, Chen C, Leng Y, Yan L, Wang S, Zhang X, Luo Y.

J Genet. 2017 Sep;96(4):647-652.

5.

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.

Ivanovski I, Akbaroghli S, Pollazzon M, Gelmini C, Caraffi SG, Mansouri M, Chavoshzadeh Z, Rosato S, Polizzi V, Gargano G, Alders M, Garavelli L, Hennekam RC.

Am J Med Genet A. 2018 May;176(5):1166-1174. doi: 10.1002/ajmg.a.38652.

PMID:
29681106
6.

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders.

Phadke SR, Kar A, Bhowmik AD, Dalal A.

Am J Med Genet A. 2016 Jun;170(6):1622-5. doi: 10.1002/ajmg.a.37643. Epub 2016 Apr 4.

PMID:
27041388
7.

A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.

Brueggemann FB, Bartsch O.

Clin Dysmorphol. 2016 Apr;25(2):50-3. doi: 10.1097/MCD.0000000000000117.

PMID:
26882220
8.

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.

Jelani M, Kang C, Mohamoud HS, Al-Rehaili R, Almramhi MM, Serafi R, Yang H, Al-Aama JY, Naeem M, Alkhiary YM.

Arch Oral Biol. 2016 Jul;67:28-33. doi: 10.1016/j.archoralbio.2016.03.012. Epub 2016 Mar 23.

PMID:
27019138
9.

Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.

Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF.

Am J Med Genet A. 2017 Jan;173(1):221-224. doi: 10.1002/ajmg.a.37981. Epub 2016 Sep 20.

PMID:
27649277
10.

Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho-rhino-phalangeal syndrome type III.

Ullah A, Umair M, Hussain S, Jan A, Ahmad W.

Pediatr Int. 2018 Mar;60(3):304-306. doi: 10.1111/ped.13473. Epub 2018 Feb 13. No abstract available.

PMID:
29436063
11.

Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.

Das Bhowmik A, Salem Ramakumaran V, Dalal A.

Am J Med Genet A. 2018 Jan;176(1):219-224. doi: 10.1002/ajmg.a.38544. Epub 2017 Nov 21.

PMID:
29159868
12.

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.

Ishino T, Takeno S, Hirakawa K.

Eur J Med Genet. 2015 Sep;58(9):427-32. doi: 10.1016/j.ejmg.2015.06.005. Epub 2015 Jul 26.

PMID:
26211601
13.

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

Risom L, Christoffersen L, Daugaard-Jensen J, Hove HD, Andersen HS, Andresen BS, Kreiborg S, Duno M.

PLoS One. 2013 Sep 18;8(9):e74601. doi: 10.1371/journal.pone.0074601. eCollection 2013.

14.

Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

Savoldi G, Izzi C, Signorelli M, Bondioni MP, Romani C, Lanzi G, Moratto D, Verdoni L, Pinotti M, Prefumo F, Superti-Furga A, Pilotta A.

Am J Med Genet A. 2013 Oct;161A(10):2614-9. doi: 10.1002/ajmg.a.36115. Epub 2013 Aug 15.

PMID:
23950054
15.

Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.

Gurrieri F, Everman DB.

Am J Med Genet A. 2013 Nov;161A(11):2860-72. doi: 10.1002/ajmg.a.36239. Epub 2013 Sep 24. Review.

PMID:
24115638
16.

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

Yıldırım Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A.

Eur J Hum Genet. 2018 Jun;26(6):876-885. doi: 10.1038/s41431-018-0121-7. Epub 2018 Mar 26.

17.

Novel SUZ12 mutations in Weaver-like syndrome.

Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N.

Clin Genet. 2018 Nov;94(5):461-466. doi: 10.1111/cge.13415. Epub 2018 Aug 6.

PMID:
30019515
18.

Novel mutations in PTH1R associated with primary failure of eruption and osteoarthritis.

Frazier-Bowers SA, Hendricks HM, Wright JT, Lee J, Long K, Dibble CF, Bencharit S.

J Dent Res. 2014 Feb;93(2):134-9. doi: 10.1177/0022034513513588. Epub 2013 Dec 3.

19.

[Tarsal-carpal coalition syndrome: a familial case].

Caino S, Dello Ruso B, Fano V, Obregón MG.

An Pediatr (Barc). 2012 Jun;76(6):355-9. doi: 10.1016/j.anpedi.2011.12.004. Epub 2012 Feb 9. Spanish.

20.

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC.

Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y. Epub 2014 Jun 7.

PMID:
24913602

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