hereditary mongolism - PMC

Kelly D. Sullivan, Donald Evans, Ahwan Pandey, Thomas H. Hraha, Keith P. Smith, Neil Markham, Angela L. Rachubinski, Kristine Wolter-Warmerdam, Francis Hickey, Joaquin M. Espinosa, Thomas Blumenthal

Sci Rep. 2017; 7: 14818. Published online 2017 Nov 1. doi: 10.1038/s41598-017-13858-3

PMCID:: PMC5665944

Abstract Article PDF–5.2M

Select item 487099010.

Intracerebral haemorrhage in Down syndrome: protected or predisposed?

Lewis Buss, Elizabeth Fisher, John Hardy, Dean Nizetic, Jurgen Groet, Laura Pulford, André Strydom

Version 1. F1000Res. 2016; 5: F1000 Faculty Rev-876. Published online 2016 May 12. doi: 10.12688/f1000research.7819.1

PMCID:: PMC4870990

Abstract Article PDF–1.6M

Select item 689259811.

Neuropathological correlates of amyloid PET imaging in Down syndrome

Eric E. Abrahamson, Elizabeth Head, Ira T. Lott, Benjamin L. Handen, Elliott J. Mufson, Bradley T. Christian, William E. Klunk, Milos D. Ikonomovic

Dev Neurobiol. Author manuscript; available in PMC 2020 Aug 17.

Published in final edited form as: Dev Neurobiol. 2019 Jul; 79(7): 750–766. Published online 2019 Aug 17. doi: 10.1002/dneu.22713

PMCID:: PMC6892598

Abstract Article PDF–1.5M

Select item 850936512.

The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer’s Disease

Tanzil Rujeedawa, Eva Carrillo Félez, Isabel C. H. Clare, Juan Fortea, Andre Strydom, Anne-Sophie Rebillat, Antonia Coppus, Johannes Levin, Shahid H. Zaman

J Clin Med. 2021 Oct; 10(19): 4582. Published online 2021 Oct 3. doi: 10.3390/jcm10194582

PMCID:: PMC8509365

Abstract Article PDF–1.9M

Select item 567657713.

Down Syndrome Screening in India: Are We There Yet?

K. Manikandan, Suresh Seshadri

J Obstet Gynaecol India. 2017 Dec; 67(6): 393–399. Published online 2017 Aug 17. doi: 10.1007/s13224-017-1042-z

PMCID:: PMC5676577

Abstract Article PDF–570K

Select item 257265114.

Take Down syndrome out of the abortion debate

Renate Lindeman

CMAJ. 2008 Nov 4; 179(10): 1088. doi: 10.1503/cmaj.081583

PMCID:: PMC2572651

Article PDF–129K

Select item 574825615.

Disturbance of redox homeostasis in Down Syndrome: role of iron dysmetabolism

Eugenio Barone, Andrea Arena, Elizabeth Head, D Allan Butterfield, Marzia Perluigi

Free Radic Biol Med. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Free Radic Biol Med. 2018 Jan; 114: 84–93. Published online 2017 Jul 10. doi: 10.1016/j.freeradbiomed.2017.07.009

PMCID:: PMC5748256

Abstract Article PDF–710K

Select item 799297716.

Molecular Mechanisms of the Genetic Predisposition to Acute Megakaryoblastic Leukemia in Infants With Down Syndrome

Juliane Grimm, Dirk Heckl, Jan-Henning Klusmann

Front Oncol. 2021; 11: 636633. Published online 2021 Mar 11. doi: 10.3389/fonc.2021.636633

PMCID:: PMC7992977

Abstract Article PDF–708K

Select item 997984017.

Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer’s disease: a cross-sectional study

Anna H. Boerwinkle, Brian A. Gordon, Julie Wisch, Shaney Flores, Rachel L. Henson, Omar H. Butt, Nicole McKay, Charles D. Chen, Tammie L.S. Benzinger, Anne M. Fagan, Benjamin L. Handen, Bradley T. Christian, Elizabeth Head, Mark Mapstone, William E. Klunk, Michael S. Rafii, Sid O’Bryant, Julie C. Price, Nicole Schupf, Charles M. Laymon, Sharon J. Krinsky-McHale, Florence Lai, H. Diana Rosas, Sigan L. Hartley, Shahid H. Zaman, Ira T. Lott, Wayne Silverman, Adam M. Brickman, Joseph H. Lee, Ricardo F. Allegri, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Nick C. Fox, Alison M. Goate, Gregory S. Day, Neill R. Graff-Radford, Mathias Jucker, Jae-Hong Lee, Johannes Levin, Hiroshi Mori, Richard J. Perrin, Stephen Salloway, Peter R. Schofield, Chengjie Xiong, Celeste M. Karch, Jason Hassenstab, Eric McDade, Randall J. Bateman, Beau M. Ances, Alzheimer’s Biomarker Consortium-Down Syndrome, the Dominantly Inherited Alzheimer Network

Lancet Neurol. Author manuscript; available in PMC 2024 Jan 1.

Published in final edited form as: Lancet Neurol. 2023 Jan; 22(1): 55–65. doi: 10.1016/S1474-4422(22)00408-2

PMCID:: PMC9979840

Abstract Article PDF–1.4M

Select item 533557318.

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

Elizabeth A. Hill

Breathe (Sheff) 2016 Dec; 12(4): e91–e96. doi: 10.1183/20734735.012116

PMCID:: PMC5335573

Abstract Article PDF–319K

Select item 939980519.

Advances in molecular characterization of myeloid proliferations associated with Down syndrome

Jixia Li, Maggie L. Kalev-Zylinska

Front Genet. 2022; 13: 891214. Published online 2022 Aug 10. doi: 10.3389/fgene.2022.891214

PMCID:: PMC9399805

Abstract Article PDF–1.2M

Select item 613294620.

Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease

David M. A. Mann, Yvonne S. Davidson, Andrew C. Robinson, Nancy Allen, Tadafumi Hashimoto, Anna Richardson, Matthew Jones, Julie S. Snowden, Neil Pendleton, Marie-Claude Potier, Annie Laquerrière, Vee Prasher, Takeshi Iwatsubo, Andre Strydom

Acta Neuropathol. 2018; 136(4): 569–587. Published online 2018 May 16. doi: 10.1007/s00401-018-1866-3

PMCID:: PMC6132946

Abstract Article PDF–3.1M

<< First< Prev

Page of 1624

Next >Last >>

Supplemental Content

Filter your results:

Manage Filters

PMC Images search for hereditary mongolism

Fig 2Association between recurrence of VTE and anticoagulation in patients with or without hereditary thrombophilia.

N, patients without hereditary thrombophilia; P, patients with hereditary thrombophilia.

The prevalence and clinical manifestation of hereditary thrombophilia in Korean patients with unprovoked venous thromboembolisms

PLoS One. 2017;12(10):e0185785.
Figure 1Number of positives in hereditary thrombophilia tests obtained.

HT: hereditary thrombophilia

Hereditary Thrombophilia Testing Among Hospitalized Patients: Is It Warranted?

Cureus. 2022 May;14(5):e24855.
FIG. 1

Classification of angioedema without urticaria (modified from reference ).
IH-AAE, Idiopathic histaminergic acquired angioedema; InH-AAE, Idiopathic non-histaminergic acquired angioedema; ACEi-AE, ACEi associated angioedema; C1-INH-AAE, Acquired AE with C1-Inh deficiency; C1-INH-HAE type I, Hereditary AE with C1-Inh deficiency; C1-INH-HAE type II, Hereditary AE with C1-Inh dysfunction; FXII-HAE, Hereditary AE with FXII Mutation; PLG-HAE, Hereditary AE with PLG Mutation; ANGPT1-HAE, Hereditary AE with ANGPT1 Mutation; KNG1-HAE, Hereditary AE with Kininogen1 Mutation; MYOF-HAE, Hereditary AE with Myoferlin Mutation; U-HAE: Hereditary AE with unknown origin.

Angioedema without wheals: a clinical update

Balkan Med J. 2021 Mar;38(2):73-81.
Fig. 2.Flow diagram of patient participation, chatbot uptake, and cancer risk outcomes. Percentages shown in the bottom row are calculated from among the 14,850 users who met National Comprehensive Cancer Network (NCCN) criteria for genetic testing. Multiple includes: hereditary breast and ovarian cancer and Lynch syndromes (n=1,137); hereditary breast and ovarian cancer syndrome and familial variant (n=267); hereditary breast and ovarian cancer, Lynch, and familial variant (n=42); Lynch and familial variant (n=19); hereditary breast and ovarian cancer and polyposis (n=12); Lynch and polyposis (n=6), hereditary breast and ovarian cancer, Lynch, and polyposis (n=4); hereditary breast and ovarian cancer, polyposis, and familial variant (n=1). An additional 452 patients met criteria, but data were missing on the specific syndrome.

Nazareth. Chatbot Cancer Risk Assessment. Obstet Gynecol 2021.

Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits

Obstet Gynecol. 2021 Dec;138(6):860-870.