Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation

Parkinsonism & Related Disorders ◽

10.1016/j.parkreldis.2021.10.008 ◽

2021 ◽

Author(s):

Ivana Rocha Raslan ◽

Marcondes Cavalcante França ◽

João Bosco Oliveira ◽

Janneke H.M. Schuurs-Hoeijmakers ◽

Rolph Pfundt ◽

...

Keyword(s):

Gene Mutation ◽

Cerebellar Hypoplasia

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MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation

Indian Journal of Human Genetics ◽

10.4103/0971-6866.112921 ◽

2013 ◽

Vol 19 (1) ◽

pp. 104

Author(s):

Rashid Saleem ◽

Gururaj Setty ◽

Nahin Hussain

Keyword(s):

Protein Kinase ◽

Gene Mutation ◽

Cerebellar Hypoplasia ◽

Kinase Gene ◽

Calcium Calmodulin Dependent ◽

Protein Kinase Gene

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Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

Brain ◽

10.1093/brain/awg173 ◽

2003 ◽

Vol 126 (7) ◽

pp. 1537-1544 ◽

Author(s):

C. Bergmann

Keyword(s):

Mental Retardation ◽

Gene Mutation ◽

Cerebellar Hypoplasia ◽

Ventricular Enlargement

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Gene Mutation Associated With Miscarriage, Found More Common in PCOS

Ob Gyn News ◽

10.1016/s0029-7437(05)70680-7 ◽

2005 ◽

Vol 40 (14) ◽

pp. 11

Author(s):

HEIDI SPLETE

Keyword(s):

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Abstract #805292: Early Onset Primary Hyperparathyroidism with CD73 Gene Mutation

Endocrine Practice ◽

10.1016/s1530-891x(20)39617-8 ◽

2020 ◽

Vol 26 ◽

pp. 59-60

Author(s):

Ana Del Carmen Rivadeneira

Keyword(s):

Primary Hyperparathyroidism ◽

Gene Mutation ◽

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Abstract #703: An Adult Patient with Severe Hypocalciuric Hypercalcemia with Negative Casr Gene Mutation

Endocrine Practice ◽

10.1016/s1530-891x(20)42684-9 ◽

2015 ◽

Vol 21 ◽

pp. 124-125

Author(s):

Grace Kim ◽

Michael Marchese ◽

Hassan Shawa ◽

Matthew Leinung ◽

Sara Clark

Keyword(s):

Adult Patient ◽

Gene Mutation ◽

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SCREENING OF FSH RECEPTOR GENE MUTATION (C566T) IN AZOOSPERMIC MEN IN JAPAN

Archives of Andrology ◽

10.1080/01485010500302063 ◽

2006 ◽

Vol 52 (1) ◽

pp. 15-19 ◽

Author(s):

T. Ishikawa ◽

M. Fujisawa ◽

J. Tapanainen

Keyword(s):

Gene Mutation ◽

Receptor Gene ◽

Fsh Receptor ◽

Fsh Receptor Gene

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CHEK2 gene mutation increases risk of breast cancer

PsycEXTRA Dataset ◽

10.1037/e458452008-007 ◽

2006 ◽

Keyword(s):

Breast Cancer ◽

Gene Mutation ◽

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Gene mutation leads to ineffective airway cilia

Nature Middle East ◽

10.1038/nmiddleeast.2020.8 ◽

2020 ◽

Author(s):

Nic Fleming

Keyword(s):

Gene Mutation ◽

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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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Gene Mutation Tied to 5% of Frontotemporal Dementia

Clinical Psychiatry News ◽

10.1016/s0270-6644(07)70313-2 ◽

2007 ◽

Vol 35 (5) ◽

pp. 40

Author(s):

JAMES BUTCHER

Keyword(s):

Frontotemporal Dementia ◽

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