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1 disrupt normal splicing of MYH11 mRNA in the affected individual.
2 o RP-associated variant identified in one RP-affected individual.
3 part of the CLP spectrum in relatives of an affected individual.
4 finding confirmed in a renal biopsy from an affected individual.
5 as confirmed in primary fibroblasts from one affected individual.
6 s autoantibodies that all persist within the affected individual.
7 number of centrioles in fibroblasts from one affected individual.
8 ent with the tubular atrophy observed in the affected individuals.
9 reduced striatal PDE10A levels in one of the affected individuals.
10 line that uses readily obtainable cells from affected individuals.
11 t accumulation, and scarring in the orbit of affected individuals.
12 ere generated from one unaffected and two TD affected individuals.
13 leading to directly benefiting families with affected individuals.
14 iant splice donor site in intron 42, in both affected individuals.
15 using ITPR1 mutations in 10/10 additional GS-affected individuals.
16 pecies when exposed to light, in the skin of affected individuals.
17 bolites specific for the enzymatic defect in affected individuals.
18 e in extensive pedigrees comprising over 100 affected individuals.
19 ype allele on 5q in fundic gland polyps from affected individuals.
20 .227G > A), both co-segregated well with all affected individuals.
21 iatry may not turn into therapeutic hope for affected individuals.
22 itol, arabitol, and ribitol in the plasma of affected individuals.
23 pyrophosphatase was significantly reduced in affected individuals.
24 tric and medical comorbidities is typical in affected individuals.
25 APK-p38 pathway in fibroblasts obtained from affected individuals.
26 ary structure, including pedigrees with only affected individuals.
27 tified using GWAS associations from 1,978 CF-affected individuals.
28 n (neurofibrillary tangles) in the brains of affected individuals.
29 th the achlorhydria that was observed in the affected individuals.
30 triphosphatase domain, each segregating with affected individuals.
31 utations within SCYL1 were identified in all affected individuals.
32 neuronal gene networks in cells derived from affected individuals.
33 ch impinges on the optic nerve and/or eye in affected individuals.
34 he context of cardiovascular features in AOS-affected individuals.
35 firmed the deletion, which was present in 11 affected individuals.
36 channel mutations with disease phenotype in affected individuals.
37 whole exome sequencing of blood DNA from two affected individuals.
38 urrent de novo loss of function mutations in affected individuals.
39 Cs are available for therapeutic attempts in affected individuals.
40 genetic predisposition in a family with six affected individuals.
41 rkedly decreased in fibroblasts and liver of affected individuals.
42 4), which segregates with the disease in all affected individuals.
43 d a high neutrophil burden in the airways of affected individuals.
44 X-complex partners in cells derived from the affected individuals.
45 e-genome sequencing (WGS) on AVM tissue from affected individuals.
46 ducational and socioeconomic consequences in affected individuals.
47 in amyloid plaques in the nervous systems of affected individuals.
48 enotypes in extended pedigrees with very few affected individuals.
49 ld-type TRMT5 cDNA in cells derived from the affected individuals.
50 ining of calpastatin is reduced in skin from affected individuals.
51 ue tumor biopsies from a cohort of 150 mCRPC affected individuals.
52 vation was not highly skewed in wbc from the affected individuals.
53 B, resulting in upregulation of this gene in affected individuals.
54 accumbens associated 1 (NACC1) gene in seven affected individuals.
55 nd find enrichment of pathogenic variants in affected individuals.
56 activating beta-catenin may be beneficial in affected individuals.
57 ride D0a4 in serum and urine of all analyzed affected individuals.
58 iological functions and disease processes in affected individuals.
59 epilepsy, and hypotonia was observed in all affected individuals.
60 tail the AF epidemic and improve outcomes in affected individuals.
61 and compromising overall quality of life of affected individuals.
62 ter similarity (P value = 0.02) to unrelated affected individuals.
63 ast of the affected region even in minimally affected individuals.
64 ype introns detected in blood monocytes from affected individuals.
65 (DD) revealed several regions shared by the affected individuals.
66 based on the clinical characteristics of the affected individuals.
67 control skeletal muscles but was absent from affected individuals.
68 vide opportunities to therapeutically manage affected individuals.
69 thus constitutes the cause of disease in the affected individuals.
70 s remain undefined for a large proportion of affected individuals.
71 n, yet current therapies fully treat <50% of affected individuals.
72 and the sense of well-being are restored in affected individuals.
73 nset myopathic cases, were identified in all affected individuals.
74 BM) leads to death or disability in half the affected individuals.
75 ous to the mutation found in the majority of affected individuals.
76 bly to genome sequencing of 235 subjects (71 affected individuals, 26 healthy siblings, and their par
77 hom a mean (SD) of 49.0% (14.0%) (n = 24) of affected individuals 50 to 59 years old already had clin
78 entified biallelic variants in DCPS in three affected individuals; a splice site variant (c.636+1G>A)
82 ngenuity variant analysis was completed on 3 affected individuals and 1 unaffected individual from a
83 IRT1 co-localizes with BCL6 in the nuclei of affected individuals and both proteins bind to and suppr
85 ization of EXTL3 in fibroblasts derived from affected individuals and determined glycosaminoglycan co
89 nic alleles to a substantial fraction of BBS-affected individuals and highlight how either deletions
90 s in the first intron of FXN occur in 96% of affected individuals and reduce frataxin expression.
92 pathy, we performed exome sequencing for two affected individuals and two unaffected members in a Tai
93 amage response signaling in fibroblasts from affected individuals and upon knockdown of Mapkbp1 in mu
94 PNKD long isoform levels are detected in all affected individuals and we provide evidence for a mecha
96 heart defects were noted in four of the five affected individuals, and there was a history of chronic
97 arly diagnosis and appropriate management of affected individuals, and will facilitate targeted desig
98 ed with early-life behavioral abnormalities, affected individuals are also at high risk for the devel
101 tion (DTD) is a life-long condition in which affected individuals are severely impaired in navigating
102 n a cohort of 202 distal arthrogryposis (DA)-affected individuals as well as concurrent exome sequenc
103 ltured keratinocytes and fibroblasts from an affected individual, as well as knockdown of Dstyk in mo
105 position of gut microbiota may change in IBD affected individuals, but whether dysbiosis is the cause
106 Despite the small size of these lesions, affected individuals can have hundreds to thousands of c
107 ral, and neurological phenotypes observed in affected individuals can vary considerably, making it di
109 unoprecipitation of YY1-bound chromatin from affected individuals' cells with antibodies recognizing
110 d in isolated lymphoblastoid cell lines from affected individuals, consistent with molecular modeling
111 crease the risk of developing CNS cancers in affected individuals, coupled with a greater appreciatio
112 iagnostic success for these more challenging affected individuals depends to a large extent on progre
117 the primary cilium and that fibroblasts from affected individuals did not display ciliogenesis defect
118 cobacterial infection of the index case, the affected individuals did not have notable histories of i
119 Sequencing of all VWF coding regions in 3 affected individuals did not identify additional mutatio
131 activity in vitro and white blood cells from affected individuals exhibited significant reductions of
132 d sarcoidosis), however, 20% of sarcoidosis-affected individuals experience progressive lung disease
134 nfirmed absence of the SQSTM1/p62 protein in affected individuals' fibroblasts and found evidence of
137 e identification of mutations in CDC45 in 15 affected individuals from 12 families with MGS and/or cr
139 We report clinical and imaging data of ten affected individuals from 2 unrelated families with SFD
140 anuary 1, 1987, to August 1, 2014, including affected individuals from 200 families with a diagnosis
142 approaches on a large patient cohort of 371 affected individuals from 265 families, with phenotypes
147 rmed whole genome sequencing on DNA from two affected individuals from a family with dominantly inher
149 agus, by using high-throughput sequencing in affected individuals from a large, multigenerational fam
153 zygous MAP3K7 mutations in six distinct CSCF-affected individuals from four families and ranging in a
154 loss-of-function variants in SQSTM1 in nine affected individuals from four families with a childhood
156 erformed whole-exome sequencing (WES) in two affected individuals from the 2p23-p16-linked MACOM fami
157 e and another Israeli pedigree (total of ten affected individuals from three different families).
161 uineous family with the PEHO phenotype where affected individuals had a homozygous frame-shift deleti
165 on to reduced volume of pons and cerebellum, affected individuals had microcephaly, psychomotor delay
168 frequently in the Amish, where virtually all affected individuals harbor homozygous founder mutations
174 chiatric disorders, meaning that partners of affected individuals have an increased risk of being aff
175 in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, rang
179 variants acting through the genotype of the affected individual (i.e. case) or the mother (e.g. via
182 ing of the OVOL2 promoter in other unrelated affected individuals identified two additional mutations
183 wed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subje
188 exonic variants that segregated in multiple affected individuals in a family and were predicted to b
189 even unrelated exome-sequenced (13%) and two affected individuals in a secondary cohort (7%) had this
190 re, lymphoblastic cell lines (LCLs) from two affected individuals in family UW-AP exhibited copy-neut
198 dulloblastoma has been described in a single affected individual; in another, biopsy of skin lesions
199 uts recapitulated the phenotypic spectrum of affected individuals, including cardiac, neurological, a
200 and biochemical phenotypic variability among affected individuals, including differences in bleeding
204 repair was deficient in fibroblasts from the affected individuals, likely due to inhibited recruitmen
205 L3 and NFE2L2 (NRF2) pathway was assessed in affected individuals' lymphocytes, revealing decreased m
207 humans and suggest limiting inflammation in affected individuals may reduce manifestation of cherubi
209 erited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well u
210 d to segregate in the family, given that the affected individuals must be heterozygous for the mutati
216 and c.751C>T [p.Arg251Cys]) in PYCR2 in the affected individuals of two consanguineous families.
217 a function of shared genetic kinship with an affected individual, often referred to as the coefficien
228 ogenic mutation in a large family with three affected individuals presenting with a novel recessive s
229 PPA2 containing the mutations identified in affected individuals, preserves mitochondrial function i
231 includes three families with a total of five affected individuals, ranging in age from 4 to 25 years.
232 oper assessment and diagnosis to ensure that affected individuals receive the treatment needed to exp
233 ha-tryptase-encoding sequence in TPSAB1, and affected individuals reported symptom complexes seen in
237 ng studies employed here in large cohorts of affected individuals revealed biallelic mutations in ARH
239 PCR analysis of CEP78 in blood leukocytes of affected individuals revealed that the c.893-1G>A mutati
240 BA5 proteins and studies in fibroblasts from affected individuals revealed that UBA5 mutations impair
241 Evaluation of these two metal ions in the affected individuals revealed variably low levels of Mn
246 Analysis of primary fibroblasts from an affected individual showed that absence of ELMO2 correla
247 carcinomas and five adenomas from different affected individuals showed a non-hypermutated profile e
248 n of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phe
255 of cathepsin B in the stratum granulosum of affected individuals than in that of control individuals
256 and TAF1C) remained unchanged in cells of an affected individual, the variant conferred gain of funct
259 gathered five additional families with eight affected individuals through the Matchmaker Exchange ini
260 concurrent exome sequencing of six other DA-affected individuals, thus revealing NALCN mutations in
262 rillar protein fibrillin-1, that predisposes affected individuals to aortic aneurysm and rupture and
265 t causes long QT syndrome, which predisposes affected individuals to ventricular arrhythmias and sudd
266 sm, albeit imperfect, given the phenotype of affected individuals, to maintain steady-state O-GlcNAc
267 etric linkage analysis of 460 families (1062 affected individuals) under a dominant model identified
268 and the mildly affected father of the fourth affected individual was confirmed as mosaic for this var
271 hoblastic lines and fibroblasts derived from affected individuals were decreased in comparison to tho
276 me and genome sequencing and found that nine affected individuals were homozygous for the ultra-rare
277 utations (six truncating), and a total of 20 affected individuals were identified in seven ADPKD- and
280 segregating a PAX9 mutation reveal that all affected individuals were missing the mandibular second
281 through the use of cell models derived from affected individuals while ensuring that clinically coll
282 there was dramatic phenotypic overlap among affected individuals who were independently ascertained
285 o upregulated in the peripheral blood of PDB-affected individuals with (n = 5) or without (n = 6) mut
286 s to analyse the ALS5/SPG11/KIAA1840 gene in affected individuals with autosomal recessive axonal Cha
287 xistence of these isoforms might explain why affected individuals with biallelic FLAD1 frameshift var
288 for documented differences in sex and IQ in affected individuals with de novo mutations by matching
290 encephalopathy, we ascertained two unrelated affected individuals with EOEE associated with developme
291 r have been previously described in some FAP-affected individuals with large deletions around promote
292 When performing DNA sequencing to diagnose affected individuals with monogenic forms of rare diseas
293 ing and targeted Sanger sequencing in 19 FMD-affected individuals with no identifiable FLNA mutation,
295 egregates with disease among the 7 surviving affected individuals, with interrogation of the entire g
298 whole-exome sequencing in four unrelated DRS-affected individuals without coding mutations in WNT5A a
299 llectual disability can be present, although affected individuals without seizures and with normal in
300 lity of clotting factor concentrates for all affected individuals worldwide remains the biggest chall
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