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(Jackson syndrome)
3,620 results
  • Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences. [Journal Article]
    Int J Mol Sci 2019; 20(23)Altinbas L, Bormann N, … Kararigas G
  • Defects in the extracellular matrix protein fibrillin-1 that perturb transforming growth factor beta (TGFβ) bioavailability lead to Marfan syndrome (MFS). MFS is an autosomal-dominant disorder, which is associated with connective tissue and skeletal defects, among others. To date, it is unclear how biological sex impacts the structural and functional properties of bone in MFS. The aim of this stu…
  • Lemierre's Syndrome Due to Methicillin-Resistant Staphylococcus aureus. [Journal Article]
    J Investig Med High Impact Case Rep 2019 Jan-Dec; 7:2324709619890967Zamora Gonzalez RA, Sarria JC, … Baliss M
  • Lemierre's syndrome is an uncommon and potentially fatal complication of oropharyngeal and facial infections. It involves an associated septic thrombophlebitis, bacteremia, and septic emboli. Traditionally, compromise of the internal jugular vein has been described in conjunction with an infection caused by anaerobes, especially, Fusobacterium necrophorum. In recent years, however, variant forms …
  • Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. [Journal Article]
    J Med Genet 2019Knapp KM, Sullivan R, … Bicknell LS
  • CONCLUSIONS: Variants in DONSON have previously been associated with extreme microcephaly, short stature and limb anomalies and perinatal lethal microcephaly-micromelia syndrome. Our novel genetic findings extend the complicated spectrum of phenotypes associated with DONSON variants and promote novel hypotheses for the role of DONSON in DNA replication. While our findings reiterate that MGORS is a disorder of DNA replication, the pathophysiology is obviously complex. This successful identification of a novel disease gene for MGORS highlights the utility of linked-read WGS as a successful technology to be considered in the genetic studies of recessive conditions.
  • Diabetes drugs for nonalcoholic fatty liver disease: a systematic review. [Journal Article]
    Syst Rev 2019; 8(1):295Blazina I, Selph S
  • CONCLUSIONS: Consistent with existing clinical practice guidelines, which recommend lifestyle intervention and treatment for comorbidities related to fatty liver disease as first-line treatment, trial evidence supports the efficacy of some diabetes drugs (especially pioglitazone) in patients with NAFLD or NASH, though weight gain with some diabetes drugs may warrant caution. Larger trials are needed to better characterize the efficacy and harms of diabetes pharmacotherapy in these patients.
  • Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). [Journal Article]
    Am J Med Genet A 2019Assia Batzir N, Posey JE, … Sutton VR
  • White-Sutton syndrome (WHSUS) is a recently-identified genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ. Thus far, over 50 individuals have been reported worldwide, however phenotypic characterization and data regarding the natural history are still incomplete. Here we report the clinical features of 22 individuals with 21 unique loss of function POGZ variants. We …
  • Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2. [Case Reports]
    Front Immunol 2019; 10:2589Hong Y, Nanthapisal S, … Brogan P
  • Monogenic forms of vasculitis are rare but increasingly recognized. Furthermore, genetic immunodeficiency is increasingly associated with inflammatory immune dysregulatory features, including vasculitis. This case report describes a child of non-consanguineous parents who presented with chronic digital vasculitis early in life, is of short stature, has facial dysmorphia, immunodeficiency (low ser…
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