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Abbreviation : AR
Long Form : autosomal recessive
No. Year Title Co-occurring Abbreviation
2020 Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. BRKS, ExAC, OI
2020 Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. NSHI
2020 GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? ECS
2020 Invasive Saprochaete capitata Infection in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature. ITS
2020 Mendelian susceptibility to mycobacterial disease: recent discoveries. MSMD
2020 Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration. DESI-MSI, RP, TCA
2020 Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome. AD
2020 Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan. ---
2020 Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. IRDs
10  2019 A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene. AD, HSP, NGS, TCC
11  2019 A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. AAF, AD, ES, SNVs
12  2019 A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay. ID/DD
13  2019 A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. WES, WMS
14  2019 Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism. ECS, IEMs
15  2019 CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. HSP
16  2019 Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy. CRD, ERG, NIR-AF, SD-OCT, WES, WGS
17  2019 Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease. CGD, XL
18  2019 Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia. HSP, MLPA, NGS
19  2019 Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family. MMIHS
20  2019 Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views. ECS
21  2019 Functional significance of the conserved C-Terminal VFVNFA motif in the retina-specific ABC transporter, ABCA4, and its role in inherited visual disease. ---
22  2019 Gene Therapy for Inherited Retinal Degeneration. AD, Cas, CRISPR, IRD, XL
23  2019 Genetics of intellectual disability in consanguineous families. ID
24  2019 Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. AM, EB, NGS, SNP, STR
25  2019 Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance. LCLs, ROH
26  2019 Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. CGRs, DMRs, ES, ROH, seDNA, SNP, TRP, UPD
27  2019 Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa. ---
28  2019 Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan. LMBBS
29  2019 Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease. BCG, MSMD
30  2019 Outcomes of Related and Unrelated Donor Searches Among Patients with Primary Immunodeficiency Diseases Referred for Allogeneic Hematopoietic Cell Transplantation. HCT, MSKCC, PIDs, XL
31  2019 Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. OI
32  2019 Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. MRI, THG1L
33  2019 Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays. UPD, UPiD
34  2019 Successful Allogenic Stem Cell Transplantation in Patients with Inherited CARD9 Deficiency. CARD9, HSCT
35  2019 The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations. IRDs
36  2019 TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations. CSNB
37  2019 Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity. GSD III, LOH, SNP, UPD, UPiD, WES
38  2019 Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia. HED
39  2019 Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. gnomAD
40  2018 A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations. PD
41  2018 A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family. Cx26, GJB2, NSHL
42  2018 A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature. SCA
43  2018 A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA. MPS IIIA, NGS, SGSH
44  2018 Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate. WES
45  2018 Autosomal Dominant Retinitis Pigmentosa. AD, RP
46  2018 Autosomal-Recessive Hyper-IgE Syndrome. HIES
47  2018 Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population. AJ, HW, IRDs
48  2018 Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern. MiRe, UPhD, UPiD
49  2018 Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome. SRNS, SSNS
50  2018 Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media. AD, HIES, PIDDs
51  2018 Cohen Syndrome: Review of the Literature. ---
52  2018 Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. LOD, RP
53  2018 Correlation between flow cytometry and molecular findings in autosomal recessive chronic granulomatous disease: A cohort study from Oman. CGD, SQUH, XL
54  2018 Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families. AD
55  2018 Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish. EYS, RP
56  2018 EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa. EYS, RP
57  2018 Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations. ACMG, AD, CMT, GDAP1, NGS, VUS
58  2018 Human hyper-IgE syndrome: singular or plural? AD, HIES
59  2018 Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease. MLPA, YOPD
60  2018 Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead. CKD, dRTA
61  2018 Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. AR-ED, CBs, HMERF, RVs
62  2018 Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. CNV, HBD, ID, WES
63  2018 Mitochondrial disorders. IEMs, mt
64  2018 Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. ID
65  2018 Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy. AD, AR/XL, IRD, NGS, RPE, XL
66  2018 Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations. SGDP
67  2018 Preliminary study on chronic granulomatous disease in Sri Lanka. CGD
68  2018 Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families. dRTA
69  2018 Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review. AD, LRP4, SOST
70  2018 Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth. ACMG, AD, CMT
71  2018 Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis. FGM, GS3
72  2018 STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population. CNVs, HL, MLPA, NS, QF-PCR
73  2018 The genetic landscape of Parkinson's disease. AD, PD
74  2018 The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon? AD, LGMD
75  2018 Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene. ARSA, MLD
76  2018 Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era. ---
77  2017 An atypical case of craniometaphyseal dysplasia. Case report and surgical treatment. AD
78  2017 EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. EYS, OCT, RP
79  2017 Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing. AD, BMD, NGS, OI
80  2017 Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome. SNP, SRPS, WES
81  2017 In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases. IRDs
82  2017 Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population. MENA, PIDs
83  2017 Novel mutation in DOCK8-HIES with severe phenotype and successful transplantation. HIES, HSCT, PML
84  2017 Rare bleeding disorders-old diseases in the era of novel options for therapy. ---
85  2017 Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa. MLPA, RP
86  2017 Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. AD, IRD, RP, XL
87  2017 Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population. EOPD
88  2017 Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients. CD
89  2016 A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? BTRBGD, MRI
90  2016 A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients. CGD, NADPH, ROI
91  2016 A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. CRD
92  2016 Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity. AD, APECED, CARD9, CMC, CMCD, HIES, IL, RORgammaT, STAT1
93  2016 Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR. cffDNA, mpDNA, NIPT
94  2016 Expanding the ataxia with oculomotor apraxia type 4 phenotype. AOA4, MCSZ, OMA
95  2016 Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease. HDL, LCAT, LDL
96  2016 GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course. CMT, GDAP1
97  2016 Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency. CMC, IL-17RA
98  2016 Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes. AD, ISPP, XL
99  2016 Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing. AD, ASHG, CCMG, CF, FXS, ISPD, MRHP, RCOG, SMFM, XL
100  2016 Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. CMT, MME, NEP