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1 ion that is expressed dominantly rather than recessively.
2  that affect MITF dimerization are inherited recessively.
3 n of tau toxicity while sut-6 deletion acted recessively.
4 , and seed-infertility QTL act additively or recessively.
5 heterozygous mutations have been identified, recessively acting ABCC8 mutations have recently been fo
6 isease transfer model allowed the mapping of recessively acting B6 genetic loci that in the proper co
7          However, identification of possible recessively acting B6-derived susceptibility genes is li
8 ternal UPD of chromosome 11, which unmasks a recessively acting gain-of-function mutation in the ABCC
9 in B6 mice harbors a previously unrecognized recessively acting gene(s) that can promote autoreactive
10        Using exome sequencing, we identified recessively acting germline alleles p.Arg180Gly and p.Gl
11 ous dominant negatively-acting mutations and recessively-acting loss-of-function mutations.
12                A mutation at this locus acts recessively and causes an early onset polycystic kidney
13 ed a cohort of nine families with DEB (seven recessively and two dominantly inherited) by a mutation
14 y known as fish-odour syndrome, is inherited recessively as a defect in hepatic N-oxidation of dietar
15       Multiple MYH9 SNPs and haplotypes were recessively associated with FSGS, most strongly a haplot
16 AP1 p.Asp575Asn and p.Arg725Gln alterations, recessively conferred disease risk.
17       Seed infertility QTL act additively or recessively, consistent with findings in other systems w
18                          Inherited autosomal recessively, either two copies of Hb S or one copy of Hb
19 us selection but ubiquitously fail to detect recessively evolving genes.
20 ummary, the Gy mutation is associated with a recessively expressed mutation of the spermine synthase
21                                          The recessively expressed phenotype is associated with inher
22  in 38% of the patients studied, segregating recessively in 84.5% of the solved cases.
23 the mutant C99 to generate Abeta, leading to recessively inherited AD.
24 lar anomalies and hypothesized that either a recessively inherited allele or a dominant de novo allel
25 to generate amyloid beta protein, leading to recessively inherited Alzheimer's disease (AD).
26 those Repeat Expansion Diseases that are not recessively inherited and are caused by repeats that are
27 l Mediterranean fever (FMF); is an autosomal recessively inherited autoinflammatory disease caused by
28      Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disorder with hig
29  to the diagnosis of ADA2 deficiency, a rare recessively inherited autoinflammatory syndrome.
30 specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Toot
31      We also identify the molecular cause of recessively inherited black coat color in hamsters (hist
32 molysis bullosa is a heterogeneous autosomal recessively inherited blistering skin disorder associate
33 fected individuals resulting in an autosomal recessively inherited cause of MLID in humans and expand
34  family in which members displayed autosomal recessively inherited cerebellar ataxia manifesting befo
35 utant mice (pcd/pcd), a model of adult-onset recessively inherited cerebello-olivary atrophy, in an a
36  mutation in Egr2, observed in patients with recessively inherited Charcot-Marie-Tooth (CMT) disease
37 ations in this gene are responsible for four recessively inherited chondrodysplasias that include dia
38     Ellis-van Creveld syndrome, an autosomal recessively inherited chondrodysplastic dwarfism, is fre
39       Mutations in RLBP1 are associated with recessively inherited clinical phenotypes, including Bot
40 tem neurological disease was associated with recessively inherited compound heterozygous mutations wi
41          Blindness enlarged globe (beg) is a recessively inherited condition of chickens characterize
42  clinically and genetically diverse group of recessively inherited conditions ranging from the most s
43                           The combination of recessively inherited cone-rod dystrophy (CRD) and amelo
44 cetylcholine receptor (AChR) deficiency is a recessively inherited congenital myasthenic syndrome in
45                                     However, recessively inherited congenital polycythemia, exemplifi
46 Variants in MYLPF underlie both dominant and recessively inherited DA.
47                             In families with recessively inherited deafness, DFNB37, our sequence ana
48 mbined with a second mutation, resulted in a recessively inherited DEB phenotype.
49                                              Recessively inherited defects are known for most of the
50 are lysosomal storage disorder caused by the recessively inherited deficiency of glucocerebrosidase.
51 We identified a syndrome due to an autosomal-recessively inherited deficiency of transketolase, encod
52    Instead, Cln3( Deltaex7/8) mice displayed recessively inherited degenerative changes in retina, ce
53 rie-Tooth disease type 4C is the most common recessively inherited demyelinating neuropathy that resu
54 rea receptor (SUR)-1 cause one of the severe recessively inherited diffuse forms of congenital hyperi
55              Gaucher disease is an autosomal recessively inherited disease caused by mutations at the
56                          Fanconi anemia is a recessively inherited disease characterized by congenita
57                Studies of the rare autosomal recessively inherited disease sitosterolemia (OMIM 21025
58 gene causes Amish nemaline myopathy (ANM), a recessively inherited disease with infantile lethality.
59 CAKUT should include ROBO1 as a new cause of recessively inherited disease.
60 ated congenital keratoglobus is an autosomal recessively inherited disorder associated with variants
61                            Patients with the recessively inherited disorder ataxia telangiectasia (A-
62                    Glycogenosis type II is a recessively inherited disorder caused by mutations in th
63 eckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilatera
64 chman-Diamond syndrome (SDS) is an autosomal recessively inherited disorder characterized by exocrine
65                    Sitosterolemia is a rare, recessively inherited disorder characterized by increase
66      Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by recurren
67                 Crigler-Najjar syndrome is a recessively inherited disorder characterized by severe u
68                 Knobloch syndrome is a rare, recessively inherited disorder classically characterized
69 se AHR to be a novel disease gene for a new, recessively inherited disorder in humans, characterized
70 on for familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation localized
71 ausing familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation.
72 in-1 are associated with Kindler syndrome, a recessively inherited disorder that is characterized by
73                          Sitosterolemia is a recessively inherited disorder that results from mutatio
74 oid-lipofuscinosis and CLN3, is an autosomal recessively inherited disorder that results in blindness
75                        Pendred syndrome is a recessively inherited disorder with the hallmark feature
76              Joubert syndrome (JS) is a rare recessively inherited disorder, with mutations reported
77 ctive couple's risk of having a child with a recessively inherited disorder.
78 lmonary veno-occlusive disease, an autosomal recessively inherited disorder.
79   Here, we resolve the genetic basis of this recessively inherited disorder.
80 anifestation of Fanconi anemia (FA), a rare, recessively inherited disorder.
81 9) gene in four consanguineous families with recessively inherited early-onset CRD.
82  pedigree supporting the identification of a recessively inherited early-onset feline PRA.
83 al transmembrane protein stargazin result in recessively inherited epilepsy and ataxia in "stargazer"
84  mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conf
85                               A more severe, recessively inherited form (CNA2; MIM 217300) and a mild
86                                            A recessively inherited form of early-onset dystonia DYT16
87 fied three unrelated individuals with a rare recessively inherited form of EDS (characterized by join
88               Congenital atrichia is a rare, recessively inherited form of hair loss affecting both m
89                          Oguchi disease is a recessively inherited form of stationary night blindness
90 opes are yet to be met, but the study of the recessively inherited forms of OI has illuminated the de
91                                We describe a recessively inherited frontonasal malformation character
92   DJ-1 has been identified as one of several recessively inherited genes whose mutation can cause fam
93                       Mutations in autosomal recessively inherited genes, namely parkin, PINK1 and DJ
94                                    Autosomal recessively inherited glucocerebrosidase 1 (GBA1) mutati
95 en increasingly implicated in dominantly and recessively inherited human diseases.
96 ng revealed a total of 11 CMT2 families with recessively inherited IGHMBP2 gene mutations.
97 stand the differences between dominantly and recessively inherited inactivating KATP mutations, we ha
98  for the disease gene underlying autosomally recessively inherited infantile onset spinocerebellar at
99 ith five independent algorithms identified a recessively inherited intronic repeat expansion [(AAGGG)
100 lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fe
101 s the limb deformity (ld) gene, give rise to recessively inherited limb deformities and renal malform
102                      Sarcoglycanopathies are recessively inherited limb-girdle muscular dystrophies (
103            A subgroup of CMS patients have a recessively inherited limb-girdle pattern of weakness ca
104 t this architecture could involve a role for recessively inherited loci for this autism subgroup.
105 type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CSF3
106 TRDN as a novel underlying genetic basis for recessively inherited LQTS.
107 ome (CHS) is a well-characterized, autosomal recessively inherited lysosomal disease caused by mutati
108                    Functional studies of the recessively inherited missense variants revealed no appa
109                     Studies in families with recessively inherited mitochondrial trifunctional protei
110 missense variant in ESRRB was implicated for recessively inherited moderate to severe hearing loss.
111 d consanguineous families who presented with recessively inherited moderate-severe intellectual disab
112 Pakistani families are notable in expressing recessively inherited monogenic disorders including IRDs
113 e parent of a severely affected patient with recessively inherited multiminicore disease.
114                           Vici syndrome is a recessively inherited multisystem disorder characterized
115  three patients from one family with a novel recessively inherited mutation, 99C>G (predicted to caus
116                                Patients with recessively inherited mutations had a more severe phenot
117                    All nine patients carried recessively inherited mutations in CECR1 (cat eye syndro
118                           CMT4B is caused by recessively inherited mutations in either myotubularin-r
119                                              Recessively inherited mutations in parkin, DJ-1, and PIN
120 a recognizable phenotype caused by autosomal recessively inherited mutations in the BEST1 gene.
121     A deficiency of GAA is responsible for a recessively inherited myopathy and cardiomyopathy, glyco
122 ficiency of this enzyme is responsible for a recessively inherited myopathy and cardiomyopathy, glyco
123 on in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline
124  consanguineous family segregating autosomal recessively inherited neonatal diabetes and the identifi
125 e analyses of families segregating autosomal recessively inherited neonatal diabetes, craniosynostosi
126 rain calcification (PFBC) is a dominantly or recessively inherited neurodegenerative disease characte
127 e neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurodegenerative disease that fea
128  vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative disorder caused
129 a (IOSCA) (MIM 271245) is a severe autosomal recessively inherited neurodegenerative disorder charact
130                  Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder charact
131                  Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder charact
132 ophy (SMA) is a relatively common, autosomal recessively inherited neurodegenerative disorder that ma
133  DExD/H-box helicases in both dominantly and recessively inherited neurodevelopmental phenotypes and
134                       GNE Myopathy is a rare recessively inherited neuromuscular disorder caused by m
135                                  DFNB61 is a recessively inherited nonsyndromic hearing loss caused b
136 recently been identified in individuals with recessively inherited nonsyndromic severe myopia.
137 ntially lethal arrhythmia disorder caused by recessively inherited null variants in TRDN-encoded card
138  CRTAP and LEPRE1 genes in severe/lethal and recessively inherited osteogenesis imperfecta has provid
139                   Juvenile CLN3 disease is a recessively inherited paediatric neurodegenerative disor
140                     DJ-1, which is linked to recessively inherited Parkinson's disease when mutated,
141 ssense mutation in DJ-1 results in autosomal recessively inherited Parkinson's disease, suggesting th
142 Parkin or PINK1 are the most common cause of recessively inherited parkinsonism.
143                            Here, we identify recessively inherited pathogenic variants in CIT as the
144                             Here we report a recessively inherited PIEZO2-related disease and demonst
145                 Using the cpk mouse model of recessively inherited polycystic kidney disease, we obse
146 and is a compound heterozygote for autosomal-recessively inherited premature termination codons of tr
147 so known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder character
148 ro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic dis
149 ded at the pvr1 locus in Capsicum results in recessively inherited resistance against several potyvir
150 hosphodiesterase gene (beta PDE) can cause a recessively inherited retinal degeneration in several sp
151 S) rat is a widely studied, classic model of recessively inherited retinal degeneration in which the
152     The RCS rat is a widely studied model of recessively inherited retinal degeneration.
153 CNGA3 channels associated with the autosomal recessively inherited retinal disease achromatopsia.
154 ue trafficking deficiencies in the autosomal recessively inherited retinal disease achromatopsia.
155 his gene among three unrelated patients with recessively inherited retinitis punctata albescens.
156 en reported to cause a spectrum of autosomal recessively inherited retinopathies, including Stargardt
157 ion in the RK gene causing Oguchi disease, a recessively inherited retinopathy.
158 ouse models, baringo, nice, and stitch, with recessively inherited sensorineural deafness due to nove
159 oracic dystrophy (ATD) or Jeune Syndrome are recessively inherited skeletal ciliopathies characterize
160 red Pakistani family with a distinct form of recessively inherited spondyloepimetaphyseal dysplasia (
161 -Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia c
162 have recently reported a suspected autosomal recessively inherited syndrome of hepatic cirrhosis, dys
163 lly between individuals with these autosomal recessively inherited syndromes and individuals with ABC
164 essive muscular degenerative disease that is recessively inherited through the X chromosome.
165 Amish nemaline myopathy, as well as of other recessively inherited TNNT1 myopathies, remain to be cla
166                       A kindred with a rare, recessively inherited type of alopecia universalis was u
167 q22.3 as a novel type of mutation underlying recessively inherited UCMD in 2 families.
168  familial risk was modeled by a hypothetical recessively inherited variant and a polygenic component
169                                            A recessively inherited variant, the mitis type of DEB (M-
170                                              Recessively inherited variants in AARS2 (NM_020745.2) en
171 us marriages among these families, autosomal recessively inherited variants were prioritized, however
172 y for a novel mutation in WFS1, the gene for recessively inherited Wolfram syndrome.
173               Among such conditions that are recessively inherited, Friedreich ataxia and RFC1-associ
174        The Belgrade (b) rat has an autosomal recessively inherited, microcytic, hypochromic anemia as
175 ralized dystonia, which can be dominantly or recessively inherited, or occur de novo.
176  Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorde
177  polydactyly syndromes (SRPS) are a group of recessively inherited, perinatal-lethal skeletal disorde
178   Crigler-Najjar syndrome type 1 (CN-1) is a recessively inherited, potentially lethal disorder chara
179 units, ABCC8 (SUR1) and KCNJ11 (Kir6.2), are recessively inherited, some cases of dominantly inherite
180     Batten's disease, one of the most common recessively inherited, untreatable, neurodegenerative di
181 nemia D and periodic fever syndrome are both recessively inherited, while three dominantly inherited
182 verall, more than 95% of the IRDs cases were recessively inherited.
183 mal renal tubular acidosis (pRTA) is a rare, recessively-inherited disease characterized by abnormall
184 FAS impair Fas-dependent apoptosis and cause recessively or dominantly inherited autoimmune lymphopro
185  isolated four point mutations in dronc that recessively suppress the eye ablation phenotype caused b
186  These loci are autosomal and isolation acts recessively; the fertilization incompatibility is caused
187                      Mutations in DJ-1 cause recessively transmitted early-onset Parkinson disease (P
188 ant trait in humans, cherubism appears to be recessively transmitted in mice, suggesting the existenc
189 me, which causes cardiac arrhythmia, and the recessively transmitted Jervell and Lange-Nielsen syndro
190 gunin causes spongiform neurodegeneration, a recessively transmitted prion-like disease in mice.

 
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