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12 weiter »

1
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

von Haworth, S ; Shapland, CY ; Hayward, C ; et al.

Haworth, S, Shapland, CY, Hayward, C, Prins, BP, Felix, J, Medina Gomez, M, Rivadeneira, F, Wang, C, Ahluwalia, TS, Vrijheid, M, Guxens Junyent, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, JL, Sass, L, Timmers, P, Al Turki, S, Anderson, CA, Anney, R, Antony, D, Artigas, MS, Ayub, M, Bala, S, Barrett, JC, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, PF, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, ....

Schlagworte: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013909A; name=EMC MM-01-39-09-A; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM045408A; name=EMC MM-04-54-08-A
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2
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

von Haworth S ; Shapland CY ; Hayward C ; et al.

Nature Communications, 1 December 2019
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3
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

von Yang, Y ; van der Klaauw, AA ; Zhu, L ; et al.

Nature Communications , 10 , Article 1718. (2019)

Schlagworte: Science & Technology; Multidisciplinary Sciences; Science & Technology - Other Topics; LEPTIN RESISTANCE; PROOPIOMELANOCORTIN NEURONS; SIGNAL TRANSDUCER; SOCS-3 EXPRESSION; FOOD-INTAKE; PPAR-GAMMA; ER STRESS; OBESITY; BALANCE; FOXO1
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4
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

von Giunta, C ; Baumann, M ; Fauth, C ; et al.
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5
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.

von Huang, J ; Howie, B ; Mccarthy, S ; et al.

Schlagworte: Whole-genome sequencing; WGS imputation panel; single-nucleotide polymorphism
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6
The UK10K project identifies rare variants in health and disease

von Walter, K ; Min, JL ; Huang, J ; et al.

Nature , 526 (7571) pp. 82-90. (2015)

Schlagworte: Science & Technology; Multidisciplinary Sciences; Genome-Wide Association; Of-Function Mutations; Low-Frequency; Incidental Findings; Sequence Variation; Complex Traits; Population; Common; Heritability; APOC3
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7
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

von Haworth, S. ; Shapland, C.Y. ; Hayward, C. (Caroline) ; et al.

Schlagworte: info:eu-repo/semantics/article
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8
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

von Huang J ; Howie B ; McCarthy S ; et al.

Nature Communications, 14 September 2015
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9
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10
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11
Clinical, Structural, Biochemical and X-Ray Crystallographic Correlates of Pathogenicity for Variants in the C-Propeptide Region of the COL3A1 Gene

von Stembridge NS ; Vandersteen AM ; Ghali N ; et al.

American Journal of Medical Genetics Part A
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12
The UK10K project identifies rare variants in health and disease

von Walter K ; Min JL ; Huang J ; et al.

Nature
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13
Guidance on minimum information requirements (MIR) from designing to reporting human biomonitoring (HBM)

von Zare Jeddi ; M ; Galea ; et al.
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14
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15
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16
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties.

von Balasubramanian M ; Fratzl-Zelman N ; O'Sullivan R ; et al.

American journal of medical genetics. Part A [Am J Med Genet A] 2018 Jul; Vol. 176 (7), pp. 1578-1586. Date of Electronic Publication: 2018 May 07.
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17
P4HB recurrent missense mutation causing Cole-Carpenter syndrome.

von Balasubramanian M ; Padidela R ; Pollitt RC ; et al.

Journal of medical genetics [J Med Genet] 2018 Mar; Vol. 55 (3), pp. 158-165. Date of Electronic Publication: 2017 Dec 20.
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18
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

von Giunta C ; Baumann M ; Fauth C ; et al.

Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Jan; Vol. 20 (1), pp. 42-54. Date of Electronic Publication: 2017 Jun 15.
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19
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.

von Balasubramanian M ; Hurst J ; Brown S ; et al.

Bone [Bone] 2017 Jan; Vol. 94, pp. 65-74. Date of Electronic Publication: 2016 Oct 24.
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20
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.

von Marshall C ; Lopez J ; Crookes L ; et al.

Gene [Gene] 2016 Dec 20; Vol. 595 (1), pp. 49-52. Date of Electronic Publication: 2016 Sep 25.
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21
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.

von Pollitt RC ; Saraff V ; Dalton A ; et al.

American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3150-3156. Date of Electronic Publication: 2016 Aug 30.
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22
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.

von Marshall CJ ; Arundel P ; Mushtaq T ; et al.

American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3303-3307. Date of Electronic Publication: 2016 Aug 23.
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23
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.

von Stembridge NS ; Vandersteen AM ; Ghali N ; et al.

American journal of medical genetics. Part A [Am J Med Genet A] 2015 Aug; Vol. 167A (8), pp. 1763-72. Date of Electronic Publication: 2015 Apr 05.
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24
CRTAP mutation in a patient with Cole-Carpenter syndrome.

von Balasubramanian M ; Pollitt RC ; Chandler KE ; et al.

American journal of medical genetics. Part A [Am J Med Genet A] 2015 Mar; Vol. 167A (3), pp. 587-91. Date of Electronic Publication: 2015 Jan 21.
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25
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

von Vandersteen AM ; Lund AM ; Ferguson DJ ; et al.

American journal of medical genetics. Part A [Am J Med Genet A] 2014 Feb; Vol. 164A (2), pp. 386-91. Date of Electronic Publication: 2013 Dec 05.
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12 weiter »

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