LARGE - Books - NCBI

See Large like-glycosyltransferase in the Gene database

large in Cavia porcellus Saccoglossus kowalevskii Chrysochloris asiatica All 35 Gene records

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GeneReviews® [Internet].

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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GeneReviews by Title GeneReviews Advanced Search Help

Select item 14680381.

Single Large-Scale Mitochondrial DNA Deletion Syndromes.

Goldstein A, Falk MJ. 2003 Dec 17 [Updated 2023 Sep 28].

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Select item 46376222.

Abetalipoproteinemia.

Burnett JR, Hooper AJ, Hegele RA. 2018 Oct 25 [Updated 2022 May 19].

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Select item 54703623.

DLG4-Related Synaptopathy.

Tümer Z, Dye TJ, Prada C, et al. 2023 Jun 22.

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Select item 15333284.

Diamond-Blackfan Anemia.

Sieff C. 2009 Jun 25 [Updated 2023 Mar 23].

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Select item 14605405.

Primary Mitochondrial Disorders Overview.

Chinnery PF. 2000 Jun 8 [Updated 2021 Jul 29].

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Select item 14617206.

Neurofibromatosis 1.

Friedman JM. 1998 Oct 2 [Updated 2022 Apr 21].

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Select item 14717867.

Congenital Contractural Arachnodactyly.

Callewaert B. 2001 Jan 23 [Updated 2022 Jul 14].

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Select item 14672268.

Carney Complex.

Stratakis CA. 2003 Feb 5 [Updated 2023 Sep 21].

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Select item 14881189.

Tuberous Sclerosis Complex.

Northrup H, Koenig MK, Pearson DA, et al. 1999 Jul 13 [Updated 2024 Aug 1].

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Select item 147224210.

Peutz-Jeghers Syndrome.

McGarrity TJ, Amos CI, Baker MJ. 2001 Feb 23 [Updated 2021 Sep 2].

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Select item 449729211.

Hyperphosphatemic Familial Tumoral Calcinosis.

Ramnitz MS, Gafni RI, Collins MT. 2018 Feb 1.

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Select item 149006812.

Prader-Willi Syndrome.

Driscoll DJ, Miller JL, Cassidy SB. 1998 Oct 6 [Updated 2023 Nov 2].

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Select item 148787613.

Primary Hyperoxaluria Type 1.

Milliner DS, Harris PC, Sas DJ, et al. 2002 Jun 19 [Updated 2024 Aug 15].

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Select item 496034414.

CYLD Cutaneous Syndrome.

Dubois A, Rajan N. 2020 Apr 16.

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Select item 147406015.

TEK-Related Venous Malformations.

Seront E, Boon LM, Vikkula M. 2008 Sep 18 [Updated 2023 Mar 2].

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Select item 146516816.

Nonketotic Hyperglycinemia.

Van Hove JLK, Coughlin C II, Swanson M, et al. 2002 Nov 14 [Updated 2019 May 23].

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Select item 445513017.

SATB2-Associated Syndrome.

Zarate YA, Bosanko K, Fish J. 2017 Oct 12 [Updated 2024 Jun 20].

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Select item 475999418.

Au-Kline Syndrome.

Au PYB, McNiven V, Phillips L, et al. 2019 Apr 18 [Updated 2024 Feb 1].

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Select item 560197219.

CDKL5 Deficiency Disorder.

Benke TA, Demarest S, Angione K, et al. 2024 Apr 11.

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Select item 304372020.

EZH2-Related Overgrowth.

Ocansey S, Tatton-Brown K. 2013 Jul 18 [Updated 2024 Mar 21].

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Supplemental Content

Images search in this book

Figure 1.

Features of CLOVES syndrome in a child with (A) a large lipomatous truncal mass that extends into the surrounding tissues and an overlying capillary malformation and (B) macrodactyly of the left foot

PIK3CA-Related Overgrowth Spectrum.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
Figure 2.

Schematic of large (>10 kilobase) pathogenic deletions associated with GJB2-related autosomal recessive nonsyndromic hearing loss
Modified from Abe et al [2018]

GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
Figure 2.

Hematoxylin and eosin stain of quadriceps muscle of an infant with GARS1-iSMA at 4X (A) and 10X (B) magnification showing findings typical of spinal muscular atrophy
A. Low power magnification demonstrates small atrophied fibers with marked variation in fiber size. Inflammatory cells are absent, and there is no increase in endomysial connective tissue.
B. Higher power magnification demonstrates clusters of large hypertrophied muscle fibers among large groups of small often rounded, atrophic muscle fibers.

GARS1-Associated Axonal Neuropathy.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
Figure 2.

Differential diagnosis of cavernous malformations
The left panel lists the differential diagnosis for "large lesion" cavernous malformations. The right panel lists the differential diagnosis for cavernous malformations not visible on standard MRI sequences (gradient echo or susceptibility-weighted imaging [SWI] only).

Familial Cerebral Cavernous Malformations.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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LARGE (125051)
Books
Nostoc sp. 'Lobaria pulmonaria (5183) cyanobiont'
Nostoc sp. 'Lobaria pulmonaria (5183) cyanobiont'
Nostoc sp. 'Lobaria pulmonaria (5183) cyanobiont' Genome sequencing

BioProject
biotin carboxylase N-terminal domain-containing protein [Streptomyces sp. SS]
biotin carboxylase N-terminal domain-containing protein [Streptomyces sp. SS]
gi|515809009|ref|WP_017239762.1|

Protein
PREDICTED: alanine--tRNA ligase, cytoplasmic [Chrysochloris asiatica]
PREDICTED: alanine--tRNA ligase, cytoplasmic [Chrysochloris asiatica]
gi|586459146|ref|XP_006860236.1|

Protein
ACSL5[sym] AND (alive[prop]) (649)
Gene

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