Results 181 to 190 of about 29,641 (255)

A Real‐Life, Multicenter, Retrospective Study on Epidemiological and Clinical Features of Patients With Hidradenitis Suppurativa and Concomitant Down Syndrome

International Journal of Dermatology, EarlyView.
Summary of the clinical characteristics and 2‐year follow‐up of patients with HS and concomitant DS in a multicentre Italian cohort, highlighting earlier HS onset, clinical features, and improved disease severity, quality of life, and pain over follow‐up, supporting early screening and multidisciplinary care of this special population.
Chiara Moltrasio, Luisa Sarno, Giovanni Genovese, Federica Derlino, Dalma Malvaso, Valeria Gaspari, Marina Venturini, Federica Repetto, Gianluca Avallone, Simone Ribero, Elisa Molinelli, Oriana Simonetti, Alessandra Michelucci, Marco Romanelli, Valentina Dini, Marco Manfredini, Cristina Magnoni, Caterina Foti, Silvia Sanna, Laura Atzori, Federico Bardazzi, Riccardo Balestri, Giulia Rech, Paolo Gisondi, Raffaele Dante Caposiena Caro, Iris Zalaudek, Viviana Lora, Luca Fania, Elia Rosi, Stefano Buffon, Carlo Alberto Maronese, Alessandra Cartocci, Pietro Rubegni, Francesca Prignano, Angelo Valerio Marzano   +34 more
wiley   +1 more source

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities. [PDF]

Genome Res
Raeisi Dehkordi S, Jia Z, Estabrook J, Hauenstein J, Miller N, Güleray-Lafci N, Neesen J, Hastie A, Chaubey A, Wing Chun Pang A, Dremsek P, Bafna V.   +11 more
europepmc   +1 more source

Prenatal genetic diagnosis and pregnancy outcomes of the surviving co-twin after spontaneous single intrauterine fetal demise. [PDF]

Sci Rep
Wu X, Fan X, Su L, Chen Y, Lu J, Dai Y, Huang H, Xu L.   +7 more
europepmc   +1 more source

Human Cortical Neural Progenitor Cells

Cell Proliferation, EarlyView.
An‐Xin Wang, Jie Hao, Guang‐Zhu Zhang, Ai‐Jin Ma, Fang Ren, Yan‐Shuang Xiao, Yu Zhang, Guang‐Jin Pan, Tao Na, Ke‐Hua Zhang, Jun Yao, Ying Zhang, Yang Zhao, Yi Zhou, Shi‐Jun Hu, Hong‐Ling Zhao, Mei Tian, Hong Zhang, Li‐Jun Zhu, Qi‐Yuan Li, Jia‐Ni Cao, Ting‐Ting Wu, Qiang Wei, Wei‐Qi Zhang, Ka Li, Lei Wang, Shuai‐Shuai Niu, Zhi‐Quan Yang, Tong‐Biao Zhao, Jing Fan   +29 more
wiley   +1 more source

Immunophenotypic, Genetic, and Clinical Features Associated With RUNX1 Mutation in Acute Leukemias and Chronic Myeloid Neoplasms

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction RUNX1 is a commonly mutated transcriptional regulator of hematopoiesis in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Mutated RUNX1 (mRUNX1) may associate with cross‐lineage immunophenotypic aberrancy, presenting potential complications for blast lineage assignment at diagnosis. Methods Clinical and laboratory
Yi Han Xia, Eric McGinnis
wiley   +1 more source

Identification of a complex chromosomal insertion using the chromosome conformation based karyotyping technique for the implementation of PGT-SR. [PDF]

BMC Genomics
Zheng T, Cheng D, Yang Y, Lu S, Li H, Xie L, Li Q, Ye H.   +7 more
europepmc   +1 more source

Lessons from clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
Fuki Marie Hisama
wiley   +1 more source

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. Methods In
Ayse Gul Bayrak Tokac, Aynur Aday, Simge Erdem, Gulcin Bagatir, Burak Don, Ozden Ozcan, Akif Selim Yavuz, Sevgi Kalayoglu Besisik, Meliha Nalcaci, Kivanc Cefle, Sukru Ozturk   +10 more
wiley   +1 more source

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis. [PDF]

BMC Pregnancy Childbirth
Chen Y, Cai M, Chen M, Pan X, Shen X, Song B, Cai X, Zhou L, Huang H.   +8 more
europepmc   +1 more source