Filters

Clear all

Expert Opinion

Plain Language Summary

Expert Review

Text Availability

Abstract

Free full text

Full text

Publication Types

Journal Article

Research Support, Non-U.S. Gov't

Review

Case Reports

Research Support, N.I.H., Extramural

Research Support, N.I.H., Intramural

Clinical Trial

Systematic Review

Multicenter Study

Publication Year

From

Quick links

Individual year

2024

2023

2022

2021

2020

2019

2017

2016

2015

2011

Sort by:

selected

Print page

Email selected articles

Favourite selected articles

Create a NED Search Alert for this search

Save this search

Advanced Search

Run an advanced search

Results for
""Haploinsufficiency""[mesh_terms]

25 Results

Searching titles within these results

MYBPC3-c.772G>A mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy.

Sonette Steczina, Jennifer Davis, Corrado Poggesi, Michael A Geeves, Josè Manuel Pioner, Michael Regnier, Iacopo Olivotto, Saffie Mohran, Logan R J Bailey, Timothy S McMillen, Kristina B Kooiker, Neil B Wood, Michael J Previs

Journal of molecular and cellular cardiology 2024;191():27-39

Free Full Text

Abstract

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

Sarah H Elsea, Stephen R Williams

Expert reviews in molecular medicine 2011;13():e14

Full Text

Abstract

Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis.

Xin Huang, Bingxuan Wu, Di Wu, Xiaoming Huang, Min Shen

Frontiers in immunology 2023;14():1191757

Free Full Text

Abstract

A20 Haploinsufficiency: A Systematic Review of 177 Cases.

Inès Elhani, Quentin Riller, Guilaine Boursier, Véronique Hentgen, Frédéric Rieux-Laucat, Sophie Georgin-Lavialle

The Journal of investigative dermatology 2024;144(6):1282-1294.e8

Free Full Text

Abstract

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

Hideki Itoh, Myriam Berthet, Véronique Fressart, Isabelle Denjoy, Svetlana Maugenre, Didier Klug, Yuka Mizusawa, Takeru Makiyama, Nynke Hofman, Birgit Stallmeyer, Sven Zumhagen, Wataru Shimizu, Arthur A M Wilde, Eric Schulze-Bahr, Minoru Horie, Sophie Tezenas du Montcel, Pascale Guicheney

European journal of human genetics : EJHG 2017;24(8):1160-6

Free Full Text

Abstract

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

Ruth Leutermann, Sara Sheikhzadeh, Lars Brockstädt, Meike Rybczynski, Vanessa van Rahden, Kerstin Kutsche, Yskert von Kodolitsch, Georg Rosenberger

European journal of human genetics : EJHG 2015;22(7):944-8

Free Full Text

Abstract

The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia.

Alejandro Gutierrez, Alex Kentsis, Takaomi Sanda, Linda Holmfeldt, Shann-Ching Chen, Jianhua Zhang, Alexei Protopopov, Lynda Chin, Suzanne E Dahlberg, Donna S Neuberg, Lewis B Silverman, Stuart S Winter, Stephen P Hunger, Stephen E Sallan, Shan Zha, Frederick W Alt, James R Downing, Charles G Mullighan, A Thomas Look

Blood 2011;118(15):4169-73

Free Full Text

Abstract

CDK13-related disorder.

Mark James Hamilton, Mohnish Suri

Advances in genetics 2019;103():163-182

Full Text

Abstract

Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans.

Xueling Sim, Shiqi Zhong, Raphael Chèvre, David Castaño Mayan, Maria Corlianò, Blake J Cochran, Kai Ping Sem, Theo H van Dijk, Jianhe Peng, Liang Juin Tan, Siddesh V Hartimath, Boominathan Ramasamy, Peter Cheng, Albert K Groen, Folkert Kuipers, Julian L Goggi, Chester Drum, Rob M van Dam, Ru San Tan, Kerry-Anne Rye, Michael R Hayden, Ching-Yu Cheng, Shaji Chacko, Jason Flannick, Hong Chang Tan, Roshni R Singaraja

The Journal of clinical investigation 2022;132(21):e152961

Free Full Text

Abstract

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Linda Z Rossetti, Kevin Glinton, Bo Yuan, Pengfei Liu, Nishitha Pillai, Elizabeth Mizerik, Pilar Magoulas, Jill A Rosenfeld, Lefkothea Karaviti, Vernon R Sutton, Seema R Lalani, Daryl A Scott

American journal of medical genetics. Part A 2020;179(7):1376-1382

Free Full Text

Abstract

Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.

Lidia Ruiz-Llorente, Elisa Chiapparino, Sara Plumitallo, Cesare Danesino, Pinar Bayrak-Toydemir, Fabio Pagella, Guido Manfredi, Carmelo Bernabeu, Luca Jovine, Carla Olivieri

Gene 2019;696():33-39

Full Text

Abstract

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.

Hye Sun Kuehn, Nicholas J Gloude, David Dimmock, Mari Tokita, Meredith Wright, Sergio D Rosenzweig, Cathleen Collins

Journal of clinical immunology 2022;41(6):1241-1249

Free Full Text

Abstract

Molecular Mechanisms of Leucine Zipper EF-Hand Containing Transmembrane Protein-1 Function in Health and Disease.

Qi-Tong Lin, Peter B Stathopulos

International journal of molecular sciences 2019;20(2):286

Free Full Text

Abstract

Large-conductance calcium-activated potassium channel haploinsufficiency leads to sensory deficits in the visual system: a case report.

Olivier Perche, Fabien Lesne, Alain Patat, Susanne Raab, Roy Twyman, Robert H Ring, Sylvain Briault

Journal of medical case reports 2022;16(1):180

Free Full Text

Abstract

IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.

Cristiane J Nunes-Santos, Hye Sun Kuehn, Sergio D Rosenzweig

Immunology and allergy clinics of North America 2021;40(3):461-470

Free Full Text

Abstract

Results: 1 – 15 / 25

Filters

Expert Opinion

Text Availability

Publication Types

Publication Year

Results for ""Haploinsufficiency""[mesh_terms]

MYBPC3-c.772G>A mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy.

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis.

A20 Haploinsufficiency: A Systematic Review of 177 Cases.

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia.

CDK13-related disorder.

Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans.

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.

Molecular Mechanisms of Leucine Zipper EF-Hand Containing Transmembrane Protein-1 Function in Health and Disease.

Large-conductance calcium-activated potassium channel haploinsufficiency leads to sensory deficits in the visual system: a case report.

IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.

Results for
""Haploinsufficiency""[mesh_terms]