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Quoted phrase not found in phrase index: "Absence deformity of leg-cataract syndrome"
Page 1
Advances in Pathogenesis of Sjogren's Syndrome.
Tian Y, Yang H, Liu N, Li Y, Chen J. Tian Y, et al. J Immunol Res. 2021 Oct 7;2021:5928232. doi: 10.1155/2021/5928232. eCollection 2021. J Immunol Res. 2021. PMID: 34660815 Free PMC article.
Sjogren's syndrome (SS) is a chronic autoimmune disease of unknown etiology that mainly involves exocrine glands. ...In recent years, studies of patients and animal models have identified abnormalities of immune cell function and cytokines to be involved in SS. ...
Sjogren's syndrome (SS) is a chronic autoimmune disease of unknown etiology that mainly involves exocrine glands. ...In recent years, …
Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.
Society for Maternal-Fetal Medicine (SMFM); Norton ME, Chauhan SP, Dashe JS. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2015 Feb;212(2):127-39. doi: 10.1016/j.ajog.2014.12.018. Epub 2014 Dec 31. Am J Obstet Gynecol. 2015. PMID: 25557883 Review.
OBJECTIVE: Nonimmune hydrops is the presence of 2 abnormal fetal fluid collections in the absence of red cell alloimmunization. The most common etiologies include cardiovascular, chromosomal, and hematologic abnormalities, followed by structural fetal anomalies, com …
OBJECTIVE: Nonimmune hydrops is the presence of 2 abnormal fetal fluid collections in the absence of red cell alloimmunization. The m …
Guidelines-similarities and dissimilarities: a systematic review of international clinical practice guidelines for pregnancy hypertension.
Scott G, Gillon TE, Pels A, von Dadelszen P, Magee LA. Scott G, et al. Am J Obstet Gynecol. 2022 Feb;226(2S):S1222-S1236. doi: 10.1016/j.ajog.2020.08.018. Epub 2020 Aug 20. Am J Obstet Gynecol. 2022. PMID: 32828743
The following were consistently recommended: (1) automated blood pressure measurement with devices validated for pregnancy and preeclampsia, reflecting increasing recognition of the prevalence of white-coat hypertension and the potential usefulness of home blood pressure monitori …
The following were consistently recommended: (1) automated blood pressure measurement with devices validated for pregnancy and preeclampsia, …
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS. Houston BJ, et al. Hum Reprod Update. 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. Hum Reprod Update. 2021. PMID: 34498060 Free PMC article.
This is likely in large part due to a delay in the field adopting next-generation sequencing (NGS) technologies, and the absence of clear statements from field leaders as to what constitutes a validated cause of human male infertility (the current paper aims to address thi …
This is likely in large part due to a delay in the field adopting next-generation sequencing (NGS) technologies, and the absence of c …
A systematic review of adults with Dravet syndrome.
Selvarajah A, Zulfiqar-Ali Q, Marques P, Rong M, Andrade DM. Selvarajah A, et al. Seizure. 2021 Apr;87:39-45. doi: 10.1016/j.seizure.2021.02.025. Epub 2021 Feb 22. Seizure. 2021. PMID: 33677403 Free article. Review.
Dravet Syndrome (DS) is a rare and severe infantile-onset epileptic encephalopathy. ...Through this systematic review, we examine the most up-to-date information in DS adults as it pertains to seizures, electroencephalogram, imaging, treatment, motor abnormalities, …
Dravet Syndrome (DS) is a rare and severe infantile-onset epileptic encephalopathy. ...Through this systematic review, we examine the …
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G, Scaglione M, Maiorano NG, Rosti G, Divizia MT, Camia T, De Rose EL, Zucconi A, Casalini E, Napoli F, Di Iorgi N, Maghnie M. Patti G, et al. Front Endocrinol (Lausanne). 2023 Jul 28;14:1213098. doi: 10.3389/fendo.2023.1213098. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37576960 Free PMC article.
BACKGROUND: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformities, cr …
BACKGROUND: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmor …
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.
Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z. Alldred SK, et al. Cochrane Database Syst Rev. 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600. Cochrane Database Syst Rev. 2017. PMID: 28295158 Free PMC article. Review.
BACKGROUND: Down's syndrome occurs when a person has three, rather than two copies of chromosome 21; or the specific area of chromosome 21 implicated in causing Down's syndrome. It is the commonest congenital cause of mental disability and also leads to numer …
BACKGROUND: Down's syndrome occurs when a person has three, rather than two copies of chromosome 21; or the specific area of chromoso …
Use of cannabidiol in the treatment of epilepsy: Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex.
Silvinato A, Floriano I, Bernardo WM. Silvinato A, et al. Rev Assoc Med Bras (1992). 2022 Nov 21;68(10):1345-1357. doi: 10.1590/1806-9282.2022D689. eCollection 2022. Rev Assoc Med Bras (1992). 2022. PMID: 36417631 Free PMC article.
OBJECTIVE: The objective of this systematic review with meta-analysis was to evaluate the efficacy, safety, and short- and long-term tolerability of cannabidiol (CBD), as an adjunct treatment, in children and adults with Dravet syndrome (SD), Lennox-Gataut syndrome …
OBJECTIVE: The objective of this systematic review with meta-analysis was to evaluate the efficacy, safety, and short- and long-term tolerab …
Characteristics of auditory evaluation in Williams syndrome: a systematic review.
Silva LAF, Kim CA, Matas CG. Silva LAF, et al. Codas. 2018 Sep 17;30(5):e20170267. doi: 10.1590/2317-1782/20182017267. Codas. 2018. PMID: 30231111 Free article. Review. English, Portuguese.
PURPOSE: Identify the characteristics of the clinical audiological evaluation of individuals with Williams syndrome by means of a systematic literature review. RESEARCH STRATEGIES: The following research question was initially determined: "What are the characteristics of c …
PURPOSE: Identify the characteristics of the clinical audiological evaluation of individuals with Williams syndrome by means of a sys …
Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.
Rosanio FM, Di Candia F, Occhiati L, Fedi L, Malvone FP, Foschini DF, Franzese A, Mozzillo E. Rosanio FM, et al. Int J Environ Res Public Health. 2022 Jan 12;19(2):835. doi: 10.3390/ijerph19020835. Int J Environ Res Public Health. 2022. PMID: 35055657 Free PMC article. Review.
BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, optic atrophy and hearing loss, all of which are crucial elements for the diagnosis. ...Since Wolfram and Wagener first described WS in 1938 …
BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive disorder that is characterized by the presence of diabetes mellitus, …
76 results