Diacylglycerol kinase delta haploinsufficiency in mice causes hypocalcaemia: relevance to human Autosomal Dominant Hypoclacemia (ADH)

Endocrine Abstracts ◽

10.1530/endoabs.77.oc5.5 ◽

2021 ◽

Author(s):

Michelle Goldsworthy ◽

Catherine Lovegrove ◽

Lee Moir ◽

Akira Wiberg ◽

Benjamin Turney ◽

...

Keyword(s):

Autosomal Dominant ◽

Diacylglycerol Kinase

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Hereditary phlebectasis of the lips. An autosomal dominant disorder

Archives of Dermatology ◽

10.1001/archderm.112.5.712 ◽

1976 ◽

Vol 112 (5) ◽

pp. 712-714

Author(s):

W. B. Reed

Keyword(s):

Autosomal Dominant ◽

Autosomal Dominant Disorder

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859: Autosomal Dominant Tranmission of Genitovaginal Prolapse

The Journal of Urology ◽

10.1016/s0022-5347(18)35028-6 ◽

2005 ◽

Vol 173 (4S) ◽

pp. 233-234

Author(s):

Gregory S. Jack ◽

Raviender Bukkapatnam ◽

Ganka Nicolav ◽

Eric Vilain ◽

Larissa V. Rodriguez

Keyword(s):

Autosomal Dominant

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109 A mutation at chromosome 7q22.3-33.1 can lead to autosomal-dominant dilated cardiomyopathy

European Journal of Heart Failure Supplements ◽

10.1016/s1567-4215(05)80067-0 ◽

2005 ◽

Vol 4 (1) ◽

pp. 25-26

Keyword(s):

Dilated Cardiomyopathy ◽

Autosomal Dominant

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Information provided by pairs of distantly affected relatives to search for genes involved in rare autosomal dominant diseases

Annals of Human Genetics ◽

10.1017/s0003480096005970 ◽

1997 ◽

Vol 61 (1) ◽

pp. 25-36 ◽

Author(s):

E. GÉNIN ◽

G. BELLIS ◽

F. CLERGET-DARPOUX

Keyword(s):

Autosomal Dominant

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Echocardiographic findings in kidney transplant patients with autosomal dominant polycystic kidney disease

Scandinavian Journal of Urology and Nephrology ◽

10.1080/00365590902972446 ◽

2009 ◽

pp. 1-4

Author(s):

Henrik Hadimeri ◽

Kenneth Caidahl ◽

Odd Bech-Hanssen ◽

Gudrun Nyberg

Keyword(s):

Kidney Disease ◽

Kidney Transplant ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Transplant Patients ◽

Kidney Transplant Patients ◽

Autosomal Dominant Polycystic Kidney ◽

Echocardiographic Findings

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Recommendations for Diagnostic and Prognostic Evaluation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) with a Focus on Imaging

Praxis ◽

10.1024/1661-8157/a002890 ◽

2018 ◽

Vol 107 (3) ◽

pp. 158-164

Author(s):

Andreas D. Kistler ◽

Gustav Andreisek

Keyword(s):

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Prognostic Evaluation ◽

Autosomal Dominant Polycystic Kidney

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Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6

Clinical Genetics ◽

10.1034/j.1399-0004.1998.531530104.x ◽

1998 ◽

Vol 53 (1) ◽

pp. 13-19 ◽

Author(s):

Hidetaka Watanabe ◽

Fumiaki Tanaka ◽

Michiyo Matsumoto ◽

Manabu Doyu ◽

Tetsuo Ando ◽

...

Keyword(s):

Spinocerebellar Ataxia ◽

Frequency Analysis ◽

Autosomal Dominant ◽

Japanese Patients ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 6 ◽

Cerebellar Ataxias

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A frequent gene mutation associated with autosomal dominant Parkinson's disease

10.1016/s0140-6736(05)70236-1 ◽

2005 ◽

Vol 365 (9457) ◽

pp. 412-415 ◽

Author(s):

A DIFONZO ◽

C ROHE ◽

J FERREIRA ◽

H CHIEN ◽

L VACCA ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Gene Mutation ◽

Autosomal Dominant

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P3432 Oxidative stress in a new variant autosomal dominant quadriceps myopathy with cardiac involvement

European Heart Journal ◽

10.1016/s0195-668x(03)96058-1 ◽

2003 ◽

Vol 24 (5) ◽

pp. 663

Author(s):

J CHARNIOT

Keyword(s):

Oxidative Stress ◽

Cardiac Involvement ◽

Autosomal Dominant ◽

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328 Utilization of Radiographic Imaging in Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

American Journal of Kidney Diseases ◽

10.1053/j.ajkd.2019.03.330 ◽

2019 ◽

Vol 73 (5) ◽

pp. 729

Keyword(s):

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Radiographic Imaging ◽

Polycystic Kidney ◽

Autosomal Dominant Polycystic Kidney

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