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Results for
""Genes, Dominant""[mesh_terms]

131 Results

Searching titles within these results

Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia.

John J P Kastelein, Joep C Defesche, Jessica Rodenburg, Sigrid W Fouchier

European journal of human genetics : EJHG 2008;13(12):1247-53

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Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations.

Paolo Spinnato, Elena Pedrini, Miriana Rosaria Petrera, Paola Zarantonello, Giovanni Trisolino, Luca Sangiorgi, Maria Carpenzano, Amandine Crombé, Cecilia Tetta

Genes 2022;13(11):1965

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TRPV4-associated skeletal dysplasias.

Gen Nishimura, Ekkehart Lausch, Ravi Savarirayan, Masahiro Shiba, Juergen Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti-Furga, Sheila Unger

American journal of medical genetics. Part C, Seminars in medical genetics 2013;160C(3):190-204

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Retinitis pigmentosa: genes, proteins and prospects.

C F Inglehearn, S P Diager, M M Hims

Developments in ophthalmology 2003;37():109-25

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New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

J A McGrath, R A Eady, W A Griffiths, G H Ashton, N V Whittock

The British journal of dermatology 2001;145(2):330-5

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Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)".

F Chiarelli, M De Simone, A Verrotti, G di Corcia, A Blasetti

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2005;9(2):59-66

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Autosomal Dominant Retinitis Pigmentosa.

Stephen H Tsang, Tarun Sharma

Advances in experimental medicine and biology 2019;1085():69-77

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Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy.

Libin Wang, Jonathan G Seidman, Christine E Seidman

Annals of internal medicine 2010;152(8):513-20, W181

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Molecular mechanisms of dominant expression in porphyria.

G H Elder, M N Badminton

Journal of inherited metabolic disease 2005;28(3):277-86

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Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.

Alexandra Durr

The Lancet. Neurology 2010;9(9):885-94

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Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy.

G E Barrantes, M O Ortells

British journal of pharmacology 2003;136(6):883-95

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Dominantly inherited hyperinsulinaemic hypoglycaemia.

P de Lonlay, I Giurgea, C Sempoux, G Touati, F Jaubert, J Rahier, M Ribeiro, F Brunelle, C Nihoul-Fékété, J-J Robert, J-M Saudubray, C Stanley, C Bellanné-Chantelot

Journal of inherited metabolic disease 2005;28(3):267-76

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Abstract