Results 71 to 80 of about 58,461 (159)

Trisomy 9 mosaicism: a genetic disorder with complications-a case report. [PDF]

J Med Case Rep
Ajour M, Bryant D, McKnight B, Hayslett A.   +3 more
europepmc   +1 more source

Anesthetic management of a gross type C tracheoesophageal fistula by balloon catheter via tracheostoma in an infant with trisomy 18: A Case Report. [PDF]

Medicine (Baltimore)
Ryo M, Ishida Y, Hosokawa M, Bito K, Oe K.   +4 more
europepmc   +1 more source

Recurrent Hodgkin's Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review. [PDF]

Diagnostics (Basel)
Szlek C, Punukollu P, Grater L, Ware D, Devoe L, Schlabritz-Lutsevich N, David H, Toussaint W, Maher J.   +8 more
europepmc   +1 more source

Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism. [PDF]

Mol Cytogenet
Dittrich T, Wenzel R, Beck A, Dahlum S, Siebert R, Friebe-Hoffmann U, Bens S.   +6 more
europepmc   +1 more source

Single cell transcriptional evolution of myeloid leukemia of Down syndrome. [PDF]

Nat Commun
Trinh MK, Schuschel K, Issa H, Thomas R, Parks C, Oszlanczi A, Ogbonnah T, Zhou D, Mamanova L, Prigmore E, Robertson ER, Hodder A, Wenger A, Anderson ND, Whitfield HJ, Treger TD, Gonçalves-Dias J, Straathof K, O'Connor D, Young MD, Jardine L, Adams S, Klusmann JH, Bartram J, Behjati S.   +24 more
europepmc   +1 more source

Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society. [PDF]

Neuromolecular Med
Di Domenico F, Perluigi M, Tramutola A, Bacalini MG, Balduino Victorino D, Barroeta I, Bartesaghi R, Carfi A, Carmona-Iragui M, Cohen AD, Costa ACS, Costanzo F, Dierssen M, Dunn L, Emili M, Evans EJ, Farrell C, Flores-Aguilar L, Fukami-Gartner A, Gimenez S, Granholm AC, Hilgenkamp T, Izzo A, Krinsky-McHale SJ, Del Hoyo Soriano L, Meijer L, Mobley B, Moskowitz IP, Nizetic D, Pierce J, Ptomey LT, Rachubinski AL, Rebillat AS, Roper R, Santoro JD, Skotko BG, Stagni F, Strydom A, Valay L, Zaman S, Zampieri BL, Trisomy 21 Research Society Executive Board, Potier MC, Barone E.   +43 more
europepmc   +1 more source

Near-Comparable Frequency of rob(21;21) and rob(14;21) Translocations in Trisomy 21: A Retrospective Cytogenetic Analysis of 9,313 Cases From an Indian Referral Cohort. [PDF]

Cureus
Kunda S, Kasaragadda M, Patibandla S, Singh S, Parvez S, Rao Golla T.   +5 more
europepmc   +1 more source

Trisomy [PDF]

, 2020
openaire   +1 more source

Fetal pathology meets clinical genetics – on the value of a comprehensive postmortem examination. [PDF]

Med Genet
Fauth C, Sprung S, BSc MM, BSc RL, Mutz-Dehbalaie I, Döttelmayer P, Freund-Unsinn K.   +6 more
europepmc   +1 more source

Genome sequencing-based CNV analysis in an infant with concurrent partial trisomies 9p and 12p due to maternal translocation: A case report. [PDF]

Medicine (Baltimore)
Azher Z, Alsabban M, Ali LA, Naffadi H, Ekram S, Obaid R.   +5 more
europepmc   +1 more source