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Clinical management approaches in Bardet-Biedl syndrome.
Malinda RR. Malinda RR. Eur J Hum Genet. 2022 Nov;30(11):1203-1204. doi: 10.1038/s41431-022-01187-7. Epub 2022 Oct 28. Eur J Hum Genet. 2022. PMID: 36319749 Free PMC article. No abstract available.
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes.
Niederlova V, Modrak M, Tsyklauri O, Huranova M, Stepanek O. Niederlova V, et al. Hum Mutat. 2019 Nov;40(11):2068-2087. doi: 10.1002/humu.23862. Epub 2019 Jul 29. Hum Mutat. 2019. PMID: 31283077
Bardet-Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ anomalies. ...
Bardet-Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ anomalies. ...
Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome.
Ervin C, Norcross L, Mallya UG, Fehnel S, Mittleman RS, Webster M, Haqq AM, Haws RM. Ervin C, et al. Adv Ther. 2023 May;40(5):2394-2411. doi: 10.1007/s12325-023-02443-y. Epub 2023 Mar 24. Adv Ther. 2023. PMID: 36961653 Free PMC article.
INTRODUCTION: Bardet-Biedl syndrome (BBS) is a rare genetic disease associated with hyperphagia, a pathologic insatiable hunger, due to impaired signaling in the melanocortin-4 receptor (MC4R) pathway. ...Telephone interviews were conducted using a semistruct …
INTRODUCTION: Bardet-Biedl syndrome (BBS) is a rare genetic disease associated with hyperphagia, a pathologic insatiabl …
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care. Tang X, et al. J Med Genet. 2022 Feb;59(2):147-154. doi: 10.1136/jmedgenet-2020-107184. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323469
Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extrarenal phenotype, which frequently involved the liver (41.7%, n=25), central nervous system (26.7%, n=16), eyes (26.7%, n=16) and skeletal system (11.7%, n=7). Accidental det …
Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extrarenal phenotype, which frequently involv …
Differential Diagnosis and Prognosis of Fetuses with Bilateral Enlarged, Hyperechogenic Kidneys: Renal Volume and Amniotic Fluid Volume with Advancing Gestation.
Morr AK, Mosimann B, Tschumi S, Surbek D, Raio L. Morr AK, et al. Z Geburtshilfe Neonatol. 2022 Apr;226(2):98-103. doi: 10.1055/a-1586-5493. Epub 2021 Sep 7. Z Geburtshilfe Neonatol. 2022. PMID: 34492706
RESULTS: 23 cases fulfilled the inclusion criteria. 12 pregnancies were terminated. For 11 continued pregnancies, longitudinal information on amniotic fluid volume and renal volume were available. 4 cases with oligohydramnios showed a progressive reduction; 6 cases with no …
RESULTS: 23 cases fulfilled the inclusion criteria. 12 pregnancies were terminated. For 11 continued pregnancies, longitudinal inform …
Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U. Mallmann MR, et al. Fetal Diagn Ther. 2019;45(1):62-68. doi: 10.1159/000486781. Epub 2018 Feb 23. Fetal Diagn Ther. 2019. PMID: 29478043
Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fe tuses, Mayer-Rokitansky-Kuster-Hauser syndrome in 3/20 fetuses …
Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman …
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin HE, Al Mogarri I, Alqwaiee MM, Alharbi AS, Baqais K, AlSaadi M, AlAnzi T, Alhashem A, Saghier A, Ameen W, Ibrahim N, Yang J, Abdulwahab F, Hashem M, Chivukula RR, Alkuraya FS. Shamseldin HE, et al. Hum Genet. 2020 Oct;139(10):1273-1283. doi: 10.1007/s00439-020-02170-2. Epub 2020 May 4. Hum Genet. 2020. PMID: 32367404
Among 81 patients (56 families), in whom PCD was suspected, 68% had pathogenic or likely pathogenic variants in established PCD-related genes that fully explain the phenotype (20 variants in 11 genes). The major clinical presentations were sinopulmonary infections (SPI) (n …
Among 81 patients (56 families), in whom PCD was suspected, 68% had pathogenic or likely pathogenic variants in established PCD-related gene …
McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
Gaucherand P, Vavasseur-Monot C, Ollagnon E, Boisson C, Labaune JM, Basset T, Yared G. Gaucherand P, et al. Prenat Diagn. 2002 Nov;22(11):1048-50. doi: 10.1002/pd.448. Prenat Diagn. 2002. PMID: 12424774
McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. ...The phenotypic relationship between MKKS which has a good prognosis and Bardet-Biedl …
McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females …
Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study.
Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F, Avni EF. Chaumoitre K, et al. Ultrasound Obstet Gynecol. 2006 Dec;28(7):911-7. doi: 10.1002/uog.3856. Ultrasound Obstet Gynecol. 2006. PMID: 17094077 Free article.
RESULTS: Of the 93 fetuses presenting with hyperechogenic kidneys and with a later diagnosis of nephropathy, there were 28 with autosomal dominant polycystic kidney disease (ADPKD), 31 with autosomal recessive polycystic kidney disease (ARPKD), 11 with Bardet-Bie …
RESULTS: Of the 93 fetuses presenting with hyperechogenic kidneys and with a later diagnosis of nephropathy, there were 28 with autosomal do …