Works matching DE "TRICHOHEPATOENTERIC syndrome"

Results: 17

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 93, doi. 10.2147/TACG.S165799

By:

Carneiro, Thaise NR;
Krepischi, Ana CV;
Costa, Silvia S;
Silva, Israel Tojal da;
Vianna-Morgante, Angela M;
Valieris, Renan;
Ezquina, Suzana AM;
Bertola, Debora R;
Otto, Paulo A;
Rosenberg, Carla

Publication type:

Article

Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes.

Published in:

BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0395-1

By:

Lewis, Morag A.;
Nolan, Lisa S.;
Cadge, Barbara A.;
Matthews, Lois J.;
Schulte, Bradley A.;
Dubno, Judy R.;
Steel, Karen P.;
Dawson, Sally J.

Publication type:

Article

Ein Erreger von vielen?

Published in:

Trillium-Diagnostik, 2023, v. 21, n. 2, p. 112

By:

von Heyking, Kristin;
Egert, Gabriele;
Ambrosch, Andreas

Publication type:

Article

Diarrea crónica intratable asociada con diarrea fenotípica de la infancia (síndrome tricohepatoentérico).

Published in:

Acta Pediatrica de Mexico, 2014, v. 35, n. 6, p. 483, doi. 10.18233/APM35No6pp483-489

By:

Cadena-León, José Francisco;
Rodríguez-Jurado, Rodolfo

Publication type:

Article

Genetics of patella hypoplasia/agenesis.

Published in:

Clinical Genetics, 2018, v. 94, n. 1, p. 43, doi. 10.1111/cge.13209

By:

Vanlerberghe, C.;
Boutry, N.;
Petit, F.

Publication type:

Article

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 708, doi. 10.1111/cge.12884

By:

Kernohan, K.D.;
McBride, A.;
Xi, Y.;
Martin, N.;
Schwartzentruber, J.;
Dyment, D.A.;
Majewski, J.;
Blaser, S.;
Boycott, K.M.;
Chitayat, D.

Publication type:

Article

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.

Published in:

Clinical Genetics, 2015, v. 87, n. 6, p. 602, doi. 10.1111/cge.12494

By:

Oz‐Levi, D.;
Weiss, B.;
Lahad, A.;
Greenberger, S.;
Pode‐Shakked, B.;
Somech, R.;
Olender, T.;
Tatarsky, P.;
Marek‐Yagel, D.;
Pras, E.;
Anikster, Y.;
Lancet, D.

Publication type:

Article

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.

Published in:

2018

By:

Vardi, Iddo;
Barel, Ortal;
Sperber, Michal;
Schvimer, Michael;
Nunberg, Moran;
Field, Michael;
Ouahed, Jodie;
Marek-Yagel, Dina;
Werner, Lael;
Haberman, Yael;
Lahad, Avishay;
Anikster, Yair;
Rechavi, Gideon;
Barshack, Iris;
McElwee, Joshua J.;
Maranville, Joseph;
Somech, Raz;
Snapper, Scott B.;
Weiss, Batia;
Shouval, Dror S.

Publication type:

journal article

Late Developing Supernumeraries in a Case of Nonsyndromic Multiple Supernumerary Teeth.

Published in:

2015

By:

Bozkurt, Mine;
Bezgin, Tugba;
Tüzüner Öncül, Ayşegül;
Göçer, Rukiye;
Sarı, Şaziye

Publication type:

Case Study

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.

Published in:

Iranian Journal of Basic Medical Sciences, 2018, v. 21, n. 3, p. 333

By:

Razmara, Ehsan;
Bitarafan, Fatemeh;
Esmaeilzadeh-Gharehdaghi, Elika;
Almadani, Navid;
Garshasbi, Masoud

Publication type:

Article

Trichohepatoenteric Syndrome or Syndromic Diarrhea—Report of Three Members in a Family, First Report from Iran.

Published in:

2016

By:

Mahjoub, F. E.;
Imanzadeh, F.;
Mahdavi Izadi, S.;
Nahali Moghaddam, A.

Publication type:

Case Study

Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.

Published in:

2016

By:

BIXIA ZHENG;
JIAN PAN;
YU JIN;
CHUNLI WANG;
ZHIFENG LIU

Publication type:

Case Study

Moyamoya Disease in Children: Results From the International Pediatric Stroke Study.

Published in:

Journal of Child Neurology, 2017, v. 32, p. 924, doi. 10.1177/0883073817718730

By:

Lee, Sarah;
Rivkin, Michael J.;
Kirton, Adam;
deVeber, Gabrielle;
Elbers, Jorina

Publication type:

Article

Alternations in genes expression of pathway signaling in esophageal tissue with atresia: results of expression microarray profiling.

Published in:

Diseases of the Esophagus, 2015, v. 28, n. 3, p. 229, doi. 10.1111/dote.12173

By:

Smigiel, R.;
Lebioda, A.;
Blaszczyński, M.;
Korecka, K.;
Czauderna, P.;
Korlacki, W.;
Jakubiak, A.;
Bednarczyk, D.;
Maciejewski, H.;
Wizinska, P.;
Sasiadek, M. M.;
Patkowski, D.

Publication type:

Article

A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.

Published in:

Veterinary Dermatology, 2017, v. 28, n. 6, p. 616, doi. 10.1111/vde.12462

By:

Hofstetter, Sonja;
Welle, Monika;
Gorgas, Daniela;
Balmer, Pierre;
Roosje, Petra;
Mock, Thomas;
Meylan, Mireille;
Jagannathan, Vidhya;
Drögemüller, Cord

Publication type:

Article

Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.

Published in:

2018

By:

Hosking, Laine M.;
Bannister, Elizabeth G.;
Cook, Matthew C.;
Choo, Sharon;
Kumble, Smitha;
Cole, Theresa S.

Publication type:

Letter

Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0388-5

By:

Kinnear, Craig;
Glanzmann, Brigitte;
Banda, Eric;
Schlechter, Nikola;
Durrheim, Glenda;
Neethling, Annika;
Nel, Etienne;
Schoeman, Mardelle;
Johnson, Glynis;
van Helden, Paul D.;
Hoal, Eileen G.;
Esser, Monika;
Urban, Michael;
Möller, Marlo

Publication type:

Article