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27 results for Syndactyly+-+complications

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ArticlesPeer ReviewedFull Text
Mouse model of Timothy syndrome recapitulates triad of autistic traits
Author / Creator:Bader, Patrick L ; Faizi, Mehrdad ; Kim, Leo H ; Owen, Scott F ; Tadross, Michael R ; Alfa, Ronald W ; Bett, Glenna C. L ; Tsien, Richard W ; Rasmusson, Randall L ; Shamloo, Mehrdad
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2011-09, Vol.108 (37), p.15432-15437
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A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain
Author / Creator:Gershon, E S ; Grennan, K ; Busnello, J ; Badner, J A ; Ovsiew, F ; Memon, S ; Alliey-Rodriguez, N ; Cooper, J ; Romanos, B ; Liu, C
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2014-08, Vol.19 (8), p.890-894
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Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis
Author / Creator:Meel, Rachna ; Ayyadurai, Nikitha ; Agrawal, Sahil ; Das, Deepsekhar
Publisher:England: BMJ Publishing Group Ltd
Journal title:BMJ case reports, 2020-06, Vol.13 (6), p.e236373
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A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex
Author / Creator:Volodarsky, Michael ; Langer, Yshaia ; Birk, Ohad S
Publisher:England: BioMed Central
Journal title:BMC genetics, 2014-09, Vol.15 (1), p.110-110, Article 110
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Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case
Author / Creator:Jensen, Emilija Daina
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2021-01, Vol.14 (1), p.e238079
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A rare association of long QT syndrome and syndactyly: Timothy Syndrome (LQT 8)
Author / Creator:Krause, U. ; Gravenhorst, V. ; Kriebel, T. ; Ruschewski, W. ; Paul, T.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Clinical research in cardiology, 2011-12, Vol.100 (12), p.1123-1127
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Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome
Author / Creator:Posey, Jennifer E. ; Dariya, Vedanta ; Edmonds, Joseph L. ; Lee, Edward I. ; Probst, Frank J. ; Premkumar, Muralidhar H.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2014-12, Vol.173 (12), p.1741-1744
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Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly
Author / Creator:Dimitrov, Boyan Ivanov ; Voet, Thierry ; De Smet, Luc ; Vermeesch, Joris Robert ; Devriendt, Koen ; Fryns, Jean-Pierre ; Debeer, Philippe
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-08, Vol.47 (8), p.569-574
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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Author / Creator:Unger, Sheila ; Böhm, Detlef ; Kaiser, Frank J ; Kaulfuß, Silke ; Borozdin, Wiktor ; Buiting, Karin ; Burfeind, Peter ; Böhm, Johann ; Barrionuevo, Francisco ; Craig, Alexander ; Borowski, Kristi ; Keppler-Noreuil, Kim ; Schmitt-Mechelke, Thomas ; Steiner, Bernhard ; Bartholdi, Deborah ; Lemke, Johannes ; Mortier, Geert ; Sandford, Richard ; Zabel, Bernhard ; Superti-Furga, Andrea ; Kohlhase, Jürgen
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-03, Vol.40 (3), p.287-289
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A rare association with suffered cardiac arrest, long QT interval, and syndactyly: Timothy syndrome (LQT-8)
Author / Creator:Ergul, Yakup ; Ozyilmaz, Isa ; Haydin, Sertac ; Guzeltas, Alper ; Tuzcu, Volkan
Publisher:Turkey: Kare Publishing
Journal title:Anatolian journal of cardiology, 2015-08, Vol.15 (8), p.672-674
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A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
Author / Creator:Ali, Ghazanfar ; Sadia, Sadia ; Ain-ul- Batool, Syeda ; Azeem, Zahid ; Awan, Naheed Bashir ; Kazmi, Syed Akif Raza ; Ur- Rehman, Zia ; Anjum, Zeeshan ; Ur- Rehman, Fazal ; Wali, Abdul ; Khan, Kafaitullah ; Zaman, Nasib ; Ayub, Muhammad ; Sajid, Muhammad ; Hassan, Noor
Publisher:England: Hindawi
Journal title:Genetics Research, 2023, Vol.2023, p.1-8
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Non-syndromic hereditary gingival fibromatosis
Author / Creator:Mohan, Ravi Prakash Sasankoti ; Verma, Sankalp ; Agarwal, Neha ; Singh, Udita
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2013-09, Vol.2013, p.bcr2012008542
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Facial Clefts and Associated Limb Anomalies: Description of Three Cases and a Review of the Literature
Author / Creator:Obdeijn, M.C. ; Offringa, P.J. ; Bos, R.R.M. ; Verhagen, A.A.E. ; Niessen, F.B. ; Roche, N.A.
Publisher:Los Angeles, CA: SAGE Publications
Journal title:The Cleft palate-craniofacial journal, 2010-11, Vol.47 (6), p.661-667
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Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3
Author / Creator:Tariq, Muhammad ; Khan, Muhammad Nasim ; Ahmad, Wasim
Publisher:Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
Journal title:Human genetics, 2009-05, Vol.125 (4), p.421-429
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Ectodermal dysplasia with syndactyly
Author / Creator:Hassan, Iffat ; Keen, Abid
Publisher:India: Medknow Publications and Media Pvt. Ltd
Journal title:Indian journal of dermatology, venereology, and leprology, 2012-05, Vol.78 (3), p.387
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A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family
Author / Creator:Lv, Dan ; Luo, Yang ; Yang, Wei ; Cao, Lihua ; Wen, Yaran ; Zhao, Xiuli ; Sun, Miao ; Lo, Wilson H-Y ; Zhang, Xue
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2009-07, Vol.54 (7), p.422-425
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Brachycephaly and syndactyly: Apert's syndrome
Author / Creator:De, Dipankar ; Narang, Tarun ; Kanwar, Amrinder J ; Dogra, Sunil
Publisher:India: Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
Journal title:Indian journal of dermatology, venereology, and leprology, 2008-07, Vol.74 (4), p.395
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Retrocaval ureter and associated abnormalities
Author / Creator:Perimenis, Petros ; Gyftopoulos, Kostis ; Athanasopoulos, Anastasios ; Pastromas, Vasilios ; Barbalias, George
Publisher:Netherlands: Springer Nature B.V
Journal title:International urology and nephrology, 2002, Vol.33 (1), p.19-22
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Renal phenotype is exacerbated in Os and lpr double mutant mice
Author / Creator:Jarad, George ; Lakhe-Reddy, Sujata ; Blatnik, Jeffrey ; Koepke, Morgan ; Khan, Shenaz ; El-Meanawy, M. Ashraf ; O'Connor, Andrew S. ; Sedor, John R. ; Schelling, Jeffrey R.
Publisher:New York, NY: Elsevier Inc
Journal title:Kidney international, 2004-09, Vol.66 (3), p.1029-1035
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A six year-old girl with several skeletal deformities and cutaneous lesions
Author / Creator:Banihashemi, Mahnaz ; Yazdanpanah, Mohammad Javad ; Pezeshkpoor, Fakhralzaman
Publisher:New Delhi: Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
Journal title:Indian journal of dermatology, venereology, and leprology, 2008-07, Vol.74 (4), p.427-428
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Showing 1 to 20 of 27 results

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Mouse model of Timothy syndrome recapitulates triad of autistic traits

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A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain

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Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis

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A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

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Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case

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A rare association of long QT syndrome and syndactyly: Timothy Syndrome (LQT 8)

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Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome

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Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

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A rare association with suffered cardiac arrest, long QT interval, and syndactyly: Timothy syndrome (LQT-8)

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A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

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Non-syndromic hereditary gingival fibromatosis

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Facial Clefts and Associated Limb Anomalies: Description of Three Cases and a Review of the Literature

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Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3

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Ectodermal dysplasia with syndactyly

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A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family

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Brachycephaly and syndactyly: Apert's syndrome

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Retrocaval ureter and associated abnormalities

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Renal phenotype is exacerbated in Os and lpr double mutant mice

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A six year-old girl with several skeletal deformities and cutaneous lesions

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