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1 lphys, obstructed hemivagina and ipsilateral renal agenesis.
2 de (classification 1.2) with associated left renal agenesis.
3 ephric mesenchyme is inhibited, resulting in renal agenesis.
4 a densa of the basement membrane and also in renal agenesis.
5  line-derived neurotrophic factor results in renal agenesis.
6 re from patients who presented with isolated renal agenesis.
7 elphys with blind hemivagina and ipsilateral renal agenesis.
8 orn fetuses that had bilateral or unilateral renal agenesis (29 subjects) or severe congenital renal
9 were found in 7 of 19 fetuses with bilateral renal agenesis (37%) and 2 of 10 fetuses (20%) with unil
10 s for understanding how this mutation caused renal agenesis, a failure of fetal kidney development.
11  neonatal lethality, mainly due to bilateral renal agenesis, along with blood-filled blisters, crypto
12 cial dysmorphism as well as foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defec
13 al (BOR) syndrome and Six1(-/-) mice exhibit renal agenesis, although the ureter is present.
14 eads to failure of mesenchymal induction and renal agenesis, an early developmental phenotype that pr
15 entified 184 patients in our repository with renal agenesis and analyzed their exome/genome data.
16 in the neonatal period, exhibiting bilateral renal agenesis and defects of the eye and the skeleton.
17          Frem1(eyes2) mice have eye defects, renal agenesis and develop retrosternal diaphragmatic he
18  survived to adulthood exhibiting unilateral renal agenesis and Fraser syndrome-like phenotypes.
19                                              Renal agenesis and hypodysplasia (RHD) are major causes
20 reased incidence of unilateral and bilateral renal agenesis, and smaller kidneys with fewer nephrons.
21       A small proportion of RetDN/+ mice had renal agenesis, and the remainder had hypoplastic kidney
22  (Obstructed Seminal Vesicle and Ipsilateral Renal Agenesis) as an acronym for Zinner syndrome analog
23                                    Bilateral renal agenesis (BRA) represents the most severe and fata
24 ng pregnancy, resulting from fetal bilateral renal agenesis, causes lethal pulmonary hypoplasia in ne
25 eleting one copy of Spry1, which rescued the renal agenesis due to loss of Fgf9 and Fgf20.
26 ects than sall1-null mice including complete renal agenesis, exencephaly, limb and anal deformities.
27 ocal translocation associated with bilateral renal agenesis has implicated the gene encoding the nucl
28 erogeneous stock-derived model of unilateral renal agenesis (HSRA) rat, which demonstrates 50%-75% sp
29 alies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease
30  of temperature indicators were observed for renal agenesis/hypoplasia (positive) and anophthalmia/mi
31 st notably, Gas1 deletion in mice results in renal agenesis in a genetic background-dependent fashion
32 ng nephrogenesis, the demonstrated rescue of renal agenesis in a model of a human genetic disease rai
33                               This prevented renal agenesis in Fras1(bl/bl) mice, permitting kidney d
34 ssed by the ureteric bud, leads to bilateral renal agenesis in humans with Fraser syndrome and blebbe
35 auses CAKUT that are markedly different than renal agenesis in Ret-null or RetY1062F mutant mice.
36 d fingertips and toes, and uni- or bilateral renal agenesis in three individuals.
37 ble, Gfralpha1(TM/TM) mice display bilateral renal agenesis, lack enteric neurons in the intestines,
38 h the specific CAKUT phenotype of unilateral renal agenesis may also be mutated in humans with isolat
39 e phenotypes of intestinal aganglionosis and renal agenesis observed in homozygous RET knockout (Ret
40 in the branching ureteric bud (UB), and that renal agenesis occurs in homozygous Fras1 null mutant bl
41  with Obstructed hemi-vagina and ipsilateral renal agenesis (OHVIRA) syndrome.
42 n as well as isolated Klippel-Feil syndrome, renal agenesis or esophageal atresia.
43  of the most severe renal anomaly, bilateral renal agenesis or hypoplasia (RA/H), has limited the abi
44                                  Among them, renal agenesis or hypoplasia, decreased innervation of t
45 62)-mediated AKT/MAPK activation resulted in renal agenesis or kidney rudiments, whereas mutation of
46  Deletion of the mouse Sall1 gene results in renal agenesis or severe dysgenesis.
47 sized that stillborn fetuses with congenital renal agenesis or severe dysplasia would possess mutatio
48 homozygous for a mutation in c-ret displayed renal agenesis or severe hypodysplasia, suggesting a cri
49 Etv4 alleles and one Etv5 allele show either renal agenesis or severe hypodysplasia, whereas kidney d
50  of the GAG chain is key as evidenced by the renal agenesis phenotype in mice deficient in the HS bio
51 evailing view that the defect underlying the renal agenesis phenotype is due to a primary role for 2-
52 e loss of Fgf9 and Fgf20, rescuing bilateral renal agenesis premature NPC differentiation, NPC prolif
53 mation of subepidermal hemorrhagic blisters, renal agenesis, syndactyly or polydactyly and permanent
54 shown that a loss of Eya 1 function leads to renal agenesis that is a likely result of failure of met
55 ur data indicate that Gas1 deletion leads to renal agenesis through a transient reduction in metaneph
56  ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such a
57 um ranges from severe malformations, such as renal agenesis, to potentially milder manifestations, su
58 , including cryptophthalmos, syndactyly, and renal agenesis, which can lead to severe complications b
59                      USG and MRI showed left renal agenesis with compensatory hypertrophy of the righ
60 anhydramnios due to isolated fetal bilateral renal agenesis without other identified congenital anoma