1 - 25 of 27 results for author:"Alanay Y." in Literature citations
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| IMPAD1 mutations in two Catel-Manzke like patients. Nizon M., Alanay Y., Tuysuz B., Kiper P.O., Genevieve D., Sillence D., Huber C., Munnich A., Cormier-Daire V. Am. J. Med. Genet. A 158A:2183-2187(2012) · Mapped (2) |
| Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Fischer B., Dimopoulou A., Egerer J., Gardeitchik T., Kidd A., Jost D., Kayserili H., Alanay Y., Tantcheva-Poor I., Mangold E. et al. Hum. Genet. 131:1761-1773(2012) · Mapped (3) |
| Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. Kilic E., Alanay Y., Utine E., Ozgen-Mocan B., Robinson P.N., Boduroglu K. Turk. J. Pediatr. 54:198-202(2012) · Mapped (5) |
| Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Nizon M., Huber C., De Leonardis F., Merrina R., Forlino A., Fradin M., Tuysuz B., Abu-Libdeh B.Y., Alanay Y., Albrecht B. et al. |
| Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Lines M.A., Huang L., Schwartzentruber J., Douglas S.L., Lynch D.C., Beaulieu C., Guion-Almeida M.L., Zechi-Ceide R.M., Gener B., Gillessen-Kaesbach G. et al. Am. J. Hum. Genet. 90:369-377(2012) · UniProtKB (1) · Mapped (8) |
| Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Daniel P.B., Morgan T., Alanay Y., Bijlsma E., Cho T.J., Cole T., Collins F., David A., Devriendt K., Faivre L. et al. Hum. Mutat. 33:665-673(2012) · Mapped (3) |
| Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Laue K., Pogoda H.M., Daniel P.B., van Haeringen A., Alanay Y., von Ameln S., Rachwalski M., Morgan T., Gray M.J., Breuning M.H. et al. Am. J. Hum. Genet. 89:595-606(2011) · UniProtKB (3) · Mapped (20) |
| Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Le Goff C., Mahaut C., Wang L.W., Allali S., Abhyankar A., Jensen S., Zylberberg L., Collod-Beroud G., Bonnet D., Alanay Y. et al. Am. J. Hum. Genet. 89:7-14(2011) · UniProtKB (1) · Mapped (13) |
| KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Putoux A., Thomas S., Coene K.L., Davis E.E., Alanay Y., Ogur G., Uz E., Buzas D., Gomes C., Patrier S. et al. |
| Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., Alanay Y., Brady A.F., Crow Y.J., Devriendt K. et al. J. Med. Genet. 48:417-421(2011) · UniProtKB (1) · Mapped (2) |
| Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Lausch E., Janecke A., Bros M., Trojandt S., Alanay Y., De Laet C., Hubner C.A., Meinecke P., Nishimura G., Matsuo M. et al. |
| Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Uz E., Alanay Y., Aktas D., Vargel I., Gucer S., Tuncbilek G., von Eggeling F., Yilmaz E., Deren O., Posorski N. et al. Am. J. Hum. Genet. 86:789-796(2010) · UniProtKB (1) |
| Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Alanay Y., Avaygan H., Camacho N., Utine G.E., Boduroglu K., Aktas D., Alikasifoglu M., Tuncbilek E., Orhan D., Bakar F.T. et al. Am. J. Hum. Genet. 86:551-559(2010) · UniProtKB (1) · Mapped (5) |
| Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Iqbal Z., Cejudo-Martin P., de Brouwer A., van der Zwaag B., Ruiz-Lozano P., Scimia M.C., Lindsey J.D., Weinreb R., Albrecht B., Megarbane A. et al. Am. J. Hum. Genet. 86:254-261(2010) · UniProtKB (2) · Mapped (7) |
| Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. Hellemans J., Simon M., Dheedene A., Alanay Y., Mihci E., Rifai L., Sefiani A., van Bever Y., Meradji M., Superti-Furga A. et al. Am. J. Hum. Genet. 85:916-922(2009) · UniProtKB (1) |
| OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. Huber C., Fradin M., Edouard T., Le Merrer M., Alanay Y., Da Silva D.B., David A., Hamamy H., van Hest L., Lund A.M. et al. Hum. Mutat. 31:20-26(2010) · Mapped (10) |
| Identification of CANT1 mutations in Desbuquois dysplasia. Huber C., Oules B., Bertoli M., Chami M., Fradin M., Alanay Y., Al-Gazali L.I., Ausems M.G., Bitoun P., Cavalcanti D.P. et al. Am. J. Hum. Genet. 85:706-710(2009) · UniProtKB (1) · Mapped (1) |
| ALX4 dysfunction disrupts craniofacial and epidermal development. Kayserili H., Uz E., Niessen C., Vargel I., Alanay Y., Tuncbilek G., Yigit G., Uyguner O., Candan S., Okur H. et al. Hum. Mol. Genet. 18:4357-4366(2009) · UniProtKB (1) |
| Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. Gok F., Crettol L.M., Alanay Y., Hacihamdioglu B., Kocaoglu M., Bonafe L., Ozen S. Eur. J. Pediatr. 169:363-367(2010) · Mapped (2) |
| Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. Furuichi T., Kayserili H., Hiraoka S., Nishimura G., Ohashi H., Alanay Y., Lerena J.C., Aslanger A.D., Koseki H., Cohn D.H. et al. J. Med. Genet. 46:562-568(2009) · Mapped (1) |
| PORCN mutations in focal dermal hypoplasia: coping with lethality. Bornholdt D., Oeffner F., Koenig A., Happle R., Alanay Y., Ascherman J., Benke P.J., Boente M.C., van der Burgt I., Chassaing N. et al. Hum. Mutat. 30:E618-E628(2009) · UniProtKB (1) |
| TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Lausch E., Hermanns P., Farin H.F., Alanay Y., Unger S., Nikkel S., Steinwender C., Scherer G., Spranger J., Zabel B. et al. Am. J. Hum. Genet. 83:649-655(2008) · UniProtKB (1) · Mapped (4) |
| A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. Berker N., Alanay Y., Elgin U., Volkan-Salanci B., Simsek T., Akarsu N., Alikasifoglu M. Acta Ophthalmol 87:52-57(2009) · Mapped (23) |
| A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Bicknell L.S., Farrington-Rock C., Shafeghati Y., Rump P., Alanay Y., Alembik Y., Al-Madani N., Firth H., Karimi-Nejad M.H., Kim C.A. et al. |
| Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population. Boduroglu K., Alanay Y., Alikasifoglu M., Aktas D., Tuncbilek E. Turk. J. Pediatr. 47:327-333(2005) · Mapped (6) |