Works matching Carpenter syndrome

Results: 54

Carpenter sendromu ve çift çıkışlı sağ ventrikül birlikteliği.

Published in:

Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2017, v. 45, n. 5, p. 454, doi. 10.5543/tkda.2016.16040

By:

Güvenç, Osman;
Çimen, Derya;
Arslan, Derya;
Güler, İbrahim

Publication type:

Article

THE POWER OF GENETIC RESEARCH: UNDERSTANDING THE ROLE OF RAB23 GENE IN CARPENTER SYNDROME.

Published in:

Genetics & Applications, 2023, p. 60

By:

Selma, Muratović

Publication type:

Article

Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function.

Published in:

Journal of Neuroscience, 2022, v. 42, n. 37, p. 7016, doi. 10.1523/JNEUROSCI.0442-22.2022

By:

Shuting Chen;
Venkatesan, Anand;
Yong Qi Lin;
Jing Xie;
Neely, Gregory;
Banerjee, Swati;
Bhat, Manzoor A.

Publication type:

Article

A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.

Published in:

Molecular Syndromology, 2013, v. 3, n. 6, p. 255, doi. 10.1159/000345653

By:

Ben-Salem, S.;
Begum, M. A.;
Ali, B. R.;
Al-Gazali, L.

Publication type:

Article

Complex craniosynostosis in the context of Carpenter's syndrome.

Published in:

2022

By:

Bouaré, Fah;
Noureldine, Mohammad Hassan A.;
Hajhouji, Farouk;
Ghannane, Houssine;
Jallo, George I.;
Ait Benali, Said

Publication type:

Case Study

Autoimmune polyglandular syndrome type 2 in the form of Carpenter syndrome in a 16.5-year-old girl.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2024, v. 99, n. 1, p. 84, doi. 10.5114/polp.2024.135701

By:

Nowak, Hanna;
Szwacka, Dominika Maria;
Niedziela, Marek;
Stankiewicz, Witold;
Obara-Moszyńska, Monika

Publication type:

Article

Clinical case of Carpenter syndrome (autoimmune-polygundularsyndrome 2) in the practice of an endocrinologist.

Published in:

Bangladesh Journal of Medical Science, 2019, v. 18, n. 3, p. 646, doi. 10.3329/bjms.v18i3.41642

By:

Nadiya, Pasiechko;
Lyudmyla, Naumova;
Ivan, Pankiv;
Taras, Krytskyy;
Alla, Khomits

Publication type:

Article

Sudden death in a child with Carpenter Syndrome. Case report and literature review.

Published in:

Forensic Science, Medicine & Pathology, 2009, v. 5, n. 4, p. 313, doi. 10.1007/s12024-009-9128-2

By:

Jeanette Ramos;
M. Balko

Publication type:

Article

The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00348-x

By:

Sáenz, Samantha S.;
Arias, Benjamin;
Hosomichi, Kazuyoshi;
Romero, Vanessa I.

Publication type:

Article

OP32.06: Prenatal diagnosis of Carpenter syndrome at 16 weeks: role of 3D ultrasound.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 149, doi. 10.1002/uog.9559

By:

Begam, M.;
Bekdache, G. N.;
Al Gazali, L.;
Mirghani, H.

Publication type:

Article

P27.08: Antenatal ultrasound diagnosis of a carpenter syndrome-New case ceport.

Published in:

Ultrasound in Obstetrics & Gynecology, 2008, v. 32, n. 3, p. 409, doi. 10.1002/uog.5938

By:

Albu, D. F.;
Albu, C. C.;
Severin, E. M.;
Purcarea, R.;
Dumitrescu, M.

Publication type:

Article

Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II).

Published in:

2008

By:

Batra, Yatindra Kumar;
Rajeev, Subramanyam;
Nishtala, Srinivas;
Grover, Gogia

Publication type:

Letter

Association of schizophrenia and Carpenter syndrome.

Published in:

Acta Neuropsychiatrica, 2003, v. 15, n. 5, p. 304, doi. 10.1034/j.1601-5215.2003.00046.x

By:

Bersani, Giuseppe;
Maddalena, Fabio;
Pasquini, Massimo;
Orlandi, Valerio;
Pancheri, Paolo

Publication type:

Article

Oral findings in Carpenter Syndrome.

Published in:: International Journal of Paediatric Dentistry, 2001, v. 11, n. 5, p. 352, doi. 10.1046/j.0960-7439.2001.00295.x
Publication type:: Article

Generalized hyperpigmentation of skin: A case of Carpenter syndrome.

Published in:

2020

By:

Sivayogana, R.;
Suresh, D.

Publication type:

Case Study

Optikusneuropathie bei Schmidt-Carpenter-Syndrom.

Published in:

Der Ophthalmologe, 2010, v. 107, n. 7, p. 656, doi. 10.1007/s00347-009-2115-x

By:

Horn, P.C.;
Harder, J.;
Lohmann, C.P.;
Lanzl, I.

Publication type:

Article

Reply to the letter by Carpenter et al. ‘Novel’ immunodeficiency syndrome may be a previously described entity.

Published in:

Clinical Genetics, 2000, v. 57, n. 1, p. 91, doi. 10.1034/j.1399-0004.2000.570117.x

By:

Roifman, Chaim M

Publication type:

Article

A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination.

Published in:

Clinical Genetics, 1997, v. 51, n. 6, p. 412, doi. 10.1111/j.1399-0004.1997.tb02501.x

By:

Balci, S.;
Önol, B.;
Eryilmaz, M.;
Haytoglu, T.

Publication type:

Article

Carpenter syndrome in a patient from Tanzania.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 986, doi. 10.1002/ajmg.a.62015

By:

Lodhia, Jay;
Rego‐Garcia, Iago;
Koipapi, Sengua;
Sadiq, Adnan;
Msuya, David;
Spaendonk, ResieVervenne‐van;
Hamel, Ben;
Dekker, Marieke

Publication type:

Article

Japanese patient with Cole‐carpenter syndrome with compound heterozygous variants of SEC24D.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2882, doi. 10.1002/ajmg.a.40643

By:

Takeyari, Shinji;
Kubota, Takuo;
Miyata, Kei;
Yamamoto, Kenichi;
Nakayama, Hirofumi;
Yamamoto, Keiko;
Ohata, Yasuhisa;
Kitaoka, Taichi;
Yanagi, Kumiko;
Kaname, Tadashi;
Ozono, Keiichi

Publication type:

Article

Cole‐Carpenter syndrome in a patient from Thailand.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1706, doi. 10.1002/ajmg.a.40358

By:

Porntaveetus, Thantrira;
Theerapanon, Thanakorn;
Srichomthong, Chalurmpon;
Shotelersuk, Vorasuk

Publication type:

Article

CRTAP mutation in a patient with Cole-Carpenter syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 587, doi. 10.1002/ajmg.a.36916

By:

Balasubramanian, Meena;
Pollitt, Rebecca C.;
Chandler, Kate E.;
Mughal, M. Z.;
Parker, Michael J.;
Dalton, Ann;
Arundel, Paul;
Offiah, Amaka C.;
Bishop, Nicholas J.

Publication type:

Article

Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2926, doi. 10.1002/ajmg.a.36726

By:

Haye, Damien;
Collet, Corinne;
Sembely‐Taveau, Catherine;
Haddad, Georges;
Denis, Christelle;
Soulé, Nathalie;
Suc, Annie‐Laure;
Listrat, Antoine;
Toutain, Annick

Publication type:

Article

Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 820, doi. 10.1002/ajmg.a.36362

By:

Victorine, Anna S.;
Weida, Jennifer;
Hines, Karrie A.;
Robinson, Barrett;
Torres‐Martinez, Wilfredo;
Weaver, David D.

Publication type:

Article

The Association of Carpenter Syndrome and Situs Inversus Totalis: First Case Report.

Published in:: Turkiye Klinikleri Journal of Medical Sciences, 2011, v. 31, n. 2, p. 464, doi. 10.5336/medsci.2010-19822
Publication type:: Article

Carpenter's syndrome. Report of a case.

Published in:

1970

By:

Saxena, S;
Sharma, J C;
Garg, O P

Publication type:

journal article

Carpenter's syndrome.

Published in:

Indian Journal of Pediatrics, 1970, v. 37, n. 12, p. 627, doi. 10.1007/BF02811186

By:

Saxena, Shakuntala;
Sharma, Jagdish;
Garg, O.

Publication type:

Article

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. E2069, doi. 10.1002/humu.21457

By:

Jenkins, Dagan;
Baynam, Gareth;
De Catte, Luc;
Elcioglu, Nursel;
Gabbett, Michael T.;
Hudgins, Louanne;
Hurst, Jane A.;
Jehee, Fernanda Sarquis;
Oley, Christine;
Wilkie, Andrew O. M.

Publication type:

Article

Carpenter's syndrome: a rare craniofacial dysmorphic syndrome.

Published in:

2009

By:

Wani AA;
Dar TI;
Ramzan A;
Ali A;
Wani, Abrar A;
Dar, Tanveer I;
Ramzan, Au;
Ali, Altaf

Publication type:

Case Study

Carpenter’s syndrome: A rare craniofacial dysmorphic syndrome.

Published in:

2009

By:

Wani, Abrar;
Dar, Tanveer;
Ramzan, AU;
Ali, Altaf

Publication type:

Letter

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Published in:

2011

By:

Hurst, Jane A.;
Jenkins, Dagan;
Vasudevan, Pradeep C.;
Kirchhoff, Maria;
Skovby, Flemming;
Rieubland, Claudine;
Gallati, Sabina;
Rittinger, Olaf;
Kroisel, Peter M.;
Johnson, David;
Biesecker, Leslie G.;
Wilkie, Andrew OM

Publication type:

Case Study

Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes.

Published in:

2016

By:

Rubio, Eva;
Blask, Anna;
Bulas, Dorothy;
Rubio, Eva I;
Bulas, Dorothy I

Publication type:

journal article

Autoimmune polyglandular syndrome type 2 (clinical case of Сarpenter syndrome).

Published in:

International Journal of Endocrinology / Mìžnarodnij Endokrinologìčnij Žurnal, 2017, v. 13, n. 8, p. 638, doi. 10.22141/2224-0721.13.8.2017.119285

By:

Chernikova, V. V.;
Soloviuk, O. O.;
Soloviuk, O. A.

Publication type:

Article

Autoimmune polyglandular syndrome type 2 in an 15-year-old boy.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2022, v. 97, n. 2, p. 151, doi. 10.5114/polp.2022.116075

By:

Badeński, Andrzej;
Badeńska, Marta;
Mierzwa, Magdalena;
Stojewska, Małgorzata;
Deja, Grażyna;
Szczepańska, Maria;
Ziora, Katarzyna

Publication type:

Article

Rab23 and developmental disorders.

Published in:

Reviews in the Neurosciences, 2018, v. 29, n. 8, p. 849, doi. 10.1515/revneuro-2017-0110

By:

Hor, Catherine H.H.;
Tang, Bor Luen;
Goh, Eyleen L.K.

Publication type:

Article

TRIGONOCEPHALY - OUR EXPERIENCE AND TREATMENT IN THE REPUBLIC OF MACEDONIA.

Published in:

Contributions / Prilozi (1857-9345), 2017, v. 38, n. 1, p. 35, doi. 10.1515/prilozi-2017-0004

By:

Mircevski, Vladimir;
Zogovska, Elizabeta;
Chaparoski, Aleksandar;
Micunovic, Mile;
Filipce, Venko;
Mirchevski, Mirko Mishel;
Kostov, Milenko;
Мicunovic, Ljubica

Publication type:

Article

Apert’s Syndrome—A Report of Five Cases.

Published in:

Journal of Hand Surgery (17531934), 1982, v. 14, n. 3, p. 317, doi. 10.1016/S0072-968X(82)80068-5

By:

YONENOBU, K.;
TADA, K.;
TSUYUGUCHI, Y.

Publication type:

Article

Infant with a big head and 'crossed' polysyndactyly.

Published in:: Journal of Paediatrics & Child Health, 2023, v. 59, n. 5, p. 773, doi. 10.1111/jpc.1_16063
Publication type:: Article

Immunohistochemical and Immunoelectron Microscopical Distribution of MEGF8 in the Mouse Central Nervous System.

Published in:

Cells (2073-4409), 2024, v. 13, n. 1, p. 63, doi. 10.3390/cells13010063

By:

Nakadate, Kazuhiko;
Kawakami, Kiyoharu

Publication type:

Article

Distinct Synaptic Vesicle Proteomic Signatures Associated with Pre- and Post-Natal Oxycodone-Exposure.

Published in:

Cells (2073-4409), 2022, v. 11, n. 11, p. 1740, doi. 10.3390/cells11111740

By:

Odegaard, Katherine E.;
Gallegos, Gabriel;
Koul, Sneh;
Schaal, Victoria L.;
Vellichirammal, Neetha N.;
Guda, Chittibabu;
Dutoit, Andrea P.;
Lisco, Steven J.;
Yelamanchili, Sowmya V.;
Pendyala, Gurudutt

Publication type:

Article

Major Özelliği Yüz -- Ekstremite Defektleri Olan Sendromlar ve Anestezi Yönetimi.

Published in:

Journal of General Medicine / Genel Tıp Dergisi, 2016, v. 26, n. 1, p. 28, doi. 10.15321/GenelTipDer.2016118198

By:

Kozanhan, Betül;
Saltalı, Ali Özgül

Publication type:

Article

THE HOLLOW SHELL OF OHIO H.B. 214: A CRITICAL EXAMINATION OF THE CONSEQUENCES OF DOWN SYNDROME DISCRIMINATION LAWS.

Published in:

University of Pittsburgh Law Review, 2020, v. 81, n. 3, p. 697, doi. 10.5195/lawreview.2020.720

By:

Beck, Elizabeth I.

Publication type:

Article

This Week in The Journal.

Published in:

Journal of Neuroscience, 2022, v. 42, n. 37, p. 7015, doi. 10.1523/JNEUROSCI.twij.42.37.2022

By:

Esch, Teresa

Publication type:

Article

Obraz kliniczny, patogeneza i ocena psychometryczna objawów negatywnych schizofrenii.

Published in:

Psychiatria Polska, 2018, v. 52, n. 2, p. 185, doi. 10.12740/70610

By:

Wójciak, Paweł;
Rybakowski, Janusz

Publication type:

Article

Deficit symptoms in schizophrenia: negative symptoms versus neuroleptic-induced deficits.

Published in:

Acta Psychiatrica Scandinavica, 1994, v. 89, p. 21, doi. 10.1111/j.1600-0447.1994.tb05827.x

By:

Schooler, N. R.

Publication type:

Article

The Greig cephalopolysyndactyly syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-10

By:

Biesecker, Leslie G.

Publication type:

Article

Editor's Comments.

Published in:

1975

By:

Johnson, Charles Felzen

Publication type:

Editorial

One-Year Outcome and Its Prediction in First-Episode Schizophrenia – A Naturalistic Study.

Published in:

Psychopathology, 2007, v. 41, n. 2, p. 115, doi. 10.1159/000112027

By:

Silke Bachmann;
Christina Bottmer;
Johannes Schroder

Publication type:

Article

Commentary on ''Should the diagnostic boundaries of schizophrenia be expanded?''.

Published in:

Cognitive Neuropsychiatry, 2011, v. 16, n. 2, p. 107, doi. 10.1080/13546805.2011.554284

By:

Yung, A. R.;
Wood, S. J.;
McGorry, P. D.;
Pantelis, C.

Publication type:

Article

Positive and negative symptoms/syndromes in schizophrenia: reliability and validity of different diagnostic systems.

Published in:

Psychological Medicine, 1995, v. 25, n. 1, p. 43, doi. 10.1017/S0033291700028075

By:

Peralta, V.;
Cuesta, M. J.;
De Leon, J.

Publication type:

Article