Results 121 to 130 of about 110,198 (324)

Application of personal computer to an analysis of smallde novo chromosomal insertion: A case ofde novo 3q2 trisomy with ins(8;3) [PDF]

, 1989
Kenji Naritomi, Yoshinori Izumikawa, Noriko Kinjo, Chuken Miyagi, Kiyotake Hirayama   +4 more
openalex   +1 more source

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

Clinical Genetics, EarlyView.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin, Claudine Rieubland, Thierry Nouspikel   +2 more
wiley   +1 more source

Essentially pure partial trisomy 6(p21.31-p25) (case report and literature review)

, 2021
Odalis Molina-Gamboa, Anduriña Barrios-Martínez, Alina García-García, Luanda Maceira, Luis A. Méndez‐Rosado   +4 more
openalex   +2 more sources

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome

European Journal of Haematology, EarlyView.
ABSTRACT Introduction Jacobsen syndrome, resulting from a terminal deletion of chromosome 11 (11q), may lead to an increased bleeding tendency due to low platelet counts or platelet dysfunction. Currently, information on bleeding tendency and platelet function in patients with nonterminal 11q‐aberrations such as larger deletions, interstitial 11q ...
Elise J. Huisman, Virgil A. S. H. Dalm, Marieke Joosten, Frans J. Smiers, Leendert Porcelijn, Arjan Hoogendijk, Hans Janssen, Nicole N. van der van der Wel, Idske C. L. Kremer Hovinga, Masja de Haas, Marjon H. Cnossen   +10 more
wiley   +1 more source

Sutimlimab in Patients With Cold Agglutinin Disease (CAD): Results From a Managed Access Program

European Journal of Haematology, EarlyView.
ABSTRACT Cold agglutinin disease (CAD) is a low‐grade lymphoproliferative disorder accounting for 15%–30% of patients suffering from autoimmune hemolytic anemias. The clonal B cells produce autoantibodies primarily of the IgM‐κ class that cause agglutination of red blood cells (RBCs) at temperatures ≤ 37°C and activate the classical complement pathway ...
Sandra Maria Frey, Pauline Halberstadt, Ferras Alashkar, Veronika Lenz, H. Christian Reinhardt, Alexander Röth   +5 more
wiley   +1 more source

Cytogenetic and molecular studies of trisomy 13. [PDF]

, 1987
Terry Hassold, P. A. Jacobs, Mark Leppert, Michael Sheldon   +3 more
openalex   +1 more source

565 Adherence to Auto-Titrating CPAP in Children with Trisomy 21 and Obstructive Sleep Apnea [PDF]

, 2021
Lisa M. Barber, Chelsea Oheim, Andrew Valenzuela, James Tomkinson, Gregory Rodden, Samantha Johnson, Tina Williams, June-Ku Brian Kang   +7 more
openalex   +1 more source

EEG functional connectivity as a marker of evolution from infantile epileptic spasms syndrome to Lennox–Gastaut syndrome

Epilepsia, EarlyView.
Abstract Objective Timely diagnosis and effective treatment of Lennox–Gastaut syndrome (LGS) improve prognosis and lower health care costs, but the transition from infantile epileptic spasms syndrome (IESS) to LGS is highly variable and insidious. Objective biomarkers are needed to monitor this progression and guide clinical decision‐making. Methods We
Blanca Romero Milà, Virginia B. Liu, Rachel J. Smith, Derek K. Hu, Natalie A. Benneian, Shaun A. Hussain, Maija Steenari, Donald Phillips, David Adams, Clare Skora, Beth A. Lopour, Daniel W. Shrey   +11 more
wiley   +1 more source

Decrease in gamma-glutamyl transpeptidase activity in early amniotic fluid in fetal trisomy 18 syndrome. [PDF]

, 1982
H Janlanko, P Aula
openalex   +1 more source

Papillary renal cell carcinoma, formerly known as Type 2: a single institutional study addressing histologic and molecular features

Histopathology, EarlyView.
Papillary renal cell carcinoma (pRCC) accounts for 15%–20% of RCC cases and is the second most common histologic subtype of RCC. In contrast to other common RCC subtypes, there continues to be ongoing debate about how to classify RCCs with papillary architecture and eosinophilic cytoplasm, given the heterogeneity of histologic, IHC and molecular ...
Melissa Yuwono Tjota, Jung Woo Kwon, Pankhuri Wanjari, Tatjana Antic   +3 more
wiley   +1 more source