Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1964 4
1967 3
1968 2
1969 1
1970 2
1971 10
1972 6
1973 7
1974 5
1975 7
1976 14
1977 7
1978 9
1979 9
1980 13
1981 23
1982 13
1983 20
1984 19
1985 36
1986 39
1987 52
1988 60
1989 99
1990 75
1991 91
1992 104
1993 109
1994 108
1995 109
1996 143
1997 144
1998 129
1999 134
2000 131
2001 141
2002 169
2003 177
2004 159
2005 156
2006 177
2007 178
2008 176
2009 197
2010 187
2011 209
2012 184
2013 216
2014 233
2015 170
2016 173
2017 164
2018 175
2019 144
2020 154
2021 157
2022 144
2023 149
2024 61

Text availability

Article attribute

Article type

Publication date

Search Results

5,355 results

Results by year

Filters applied: . Clear all
Page 1
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C. Clissold RL, et al. Nat Rev Nephrol. 2015 Feb;11(2):102-12. doi: 10.1038/nrneph.2014.232. Epub 2014 Dec 23. Nat Rev Nephrol. 2015. PMID: 25536396 Review.
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1beta (HNF1B) represent the most common known monogenic cause of developmental kidney disease. Renal cysts are the most frequently detected feature of HNF1B-associated kidney …
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1beta (HNF1B) represent the most common k …
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." Other characteristic features are hypotonia with lateral atax …
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a di …
Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system).
Nguyen HT, Benson CB, Bromley B, Campbell JB, Chow J, Coleman B, Cooper C, Crino J, Darge K, Herndon CD, Odibo AO, Somers MJ, Stein DR. Nguyen HT, et al. J Pediatr Urol. 2014 Dec;10(6):982-98. doi: 10.1016/j.jpurol.2014.10.002. Epub 2014 Nov 15. J Pediatr Urol. 2014. PMID: 25435247 Free article. Review.
The proposed UTD Classification System (and hence the severity of the UT dilation) is based on six categories in US findings: 1) anterior-posterior renal pelvic diameter (APRPD); 2) calyceal dilation; 3) renal parenchymal thickness; 4) renal parenchymal appea …
The proposed UTD Classification System (and hence the severity of the UT dilation) is based on six categories in US findings: 1) anterior-po …
Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT).
Rodriguez MM. Rodriguez MM. Fetal Pediatr Pathol. 2014 Oct-Dec;33(5-6):293-320. doi: 10.3109/15513815.2014.959678. Epub 2014 Oct 14. Fetal Pediatr Pathol. 2014. PMID: 25313840 Free PMC article. Review.
This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral …
This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology descr …
The preauricular sinus: a review of its clinical presentation, treatment, and associations.
Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V. Scheinfeld NS, et al. Pediatr Dermatol. 2004 May-Jun;21(3):191-6. doi: 10.1111/j.0736-8046.2004.21301.x. Pediatr Dermatol. 2004. PMID: 15165194 Review.
Preauricular sinuses (ear pits) are common congenital abnormalities. Usually asymptomatic, they manifest as small dells adjacent to the external ear near the anterior margin of the ascending limb of the helix, most frequently on the right side. ...Preauricular sinuses are …
Preauricular sinuses (ear pits) are common congenital abnormalities. Usually asymptomatic, they manifest as small dells adjacent to t …
Renal dysplasia.
Chen RY, Chang H. Chen RY, et al. Arch Pathol Lab Med. 2015 Apr;139(4):547-51. doi: 10.5858/arpa.2013-0660-RS. Arch Pathol Lab Med. 2015. PMID: 25822765 Free article. Review.
Renal dysplasia is an aberrant developmental disease usually diagnosed during the perinatal and childhood years. ...Histopathology shows primitive tubules surrounded by a fibromuscular collar. The differential diagnosis includes renal dysplasia, hypoplasia, a …
Renal dysplasia is an aberrant developmental disease usually diagnosed during the perinatal and childhood years. ...Histopathology sh …
Hereditary Renal Diseases.
Mehta L, Jim B. Mehta L, et al. Semin Nephrol. 2017 Jul;37(4):354-361. doi: 10.1016/j.semnephrol.2017.05.007. Semin Nephrol. 2017. PMID: 28711074 Review.
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. …
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Techno …
Congenital urinary tract obstruction.
Cheung KW, Morris RK, Kilby MD. Cheung KW, et al. Best Pract Res Clin Obstet Gynaecol. 2019 Jul;58:78-92. doi: 10.1016/j.bpobgyn.2019.01.003. Epub 2019 Jan 11. Best Pract Res Clin Obstet Gynaecol. 2019. PMID: 30819578 Review.
Congenital bladder neck obstruction (or lower urinary tract obstruction [LUTO]) describes a heterogeneous group of congenital anomalies presenting with similar prenatal ultrasonographic findings of dilated posterior urethra, megacystis, hydronephrosis, oligohydramnios and often w …
Congenital bladder neck obstruction (or lower urinary tract obstruction [LUTO]) describes a heterogeneous group of congenital anomalies pres …
Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR. Fouda MA, et al. World Neurosurg. 2022 Mar;159:48-53. doi: 10.1016/j.wneu.2021.12.062. Epub 2021 Dec 22. World Neurosurg. 2022. PMID: 34954057 Review.
Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gomez-Lopez-Hernandez syndrome (GLHS) or VACTERL: vertebral anomalies (V), anal atresia (A), cardiovascular defects (C), esophageal atresia and/or tracheoesoph …
Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gomez-Lopez-Hernand …
Lower Urinary Tract Obstruction in Newborns.
Flores-Torres J, Sanchez-Valle A, Duncan JR, Panzarino V, Rodriguez JM, Kirby RS. Flores-Torres J, et al. Adv Pediatr. 2023 Aug;70(1):131-144. doi: 10.1016/j.yapd.2023.03.001. Epub 2023 May 15. Adv Pediatr. 2023. PMID: 37422291 Review.
Lower urinary tract obstruction (LUTO) is a rare birth defect with a prevalence between 1 in 5,000 and 1 in 25,000 pregnancies. LUTO is one of the most common causes of congenital abnormalities of the renal tract. Several genetic conditions have been associated with …
Lower urinary tract obstruction (LUTO) is a rare birth defect with a prevalence between 1 in 5,000 and 1 in 25,000 pregnancies. LUTO is one …
5,355 results