Results 121 to 130 of about 8,531 (188)

A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome. [PDF]

CEN Case Rep, 2020
Aoto Y, Kise T, Nakanishi K, Nagano C, Horinouchi T, Yamamura T, Ishiko S, Sakakibara N, Shima Y, Morisada N, Iijima K, Nozu K.   +11 more
europepmc   +1 more source

Genotype-phenotype correlation in multiple endocrine neoplasia type 1

JCI Insight
BACKGROUND Among patients with multiple endocrine neoplasia type 1 (MEN1), 80% develop duodenopancreatic neuroendocrine tumors (dpNETs), of whom 15%–25% die of metastasis. There is a need to identify biomarkers to predict aggressive disease.
Charlita C. Worthy, Rana Tora, Chandra N. Uttarkar, James M. Welch, Lynn Bliss, Craig Cochran, Anisha Ninan, Sheila Kumar, Stephen Wank, Sungyoung Auh, Lee S. Weinstein, William F. Simonds, Sunita K. Agarwal, Jenny E. Blau, Smita Jha   +14 more
doaj   +1 more source

Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing. [PDF]

Am J Case Rep
Shen Y, Liu C, Wei W, Huang Y, Zhu Q, Zhao Y.   +5 more
europepmc   +1 more source

Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review. [PDF]

J Hum Genet
Poquérusse J, Whitford W, Taylor J, Gregersen N, Love DR, Tsang B, Drake KM, Snell RG, Lehnert K, Jacobsen JC.   +9 more
europepmc   +1 more source

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China

The Application of Clinical Genetics
Lulu Meng,1,* Yan Wang,1,* Junqiang Zhang,2,* Ran Zhou,1 Xingxing Wang,3 Fengchang Qiao,1 Qinxin Zhang,1 Cheng Wan,3 Shujing Jiao,3 Ping Hu,1 Zhengfeng Xu11Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical ...
Meng L, Wang Y, Zhang J, Zhou R, Wang X, Qiao F, Zhang Q, Wan C, Jiao S, Hu P, Xu Z   +10 more
doaj  

A Case Report of Parental Germline Mosaicism in the PCDH19 Gene of Two Iranian Siblings. [PDF]

Basic Clin Neurosci
Alijanpour S, Ghafouri-Fard S, Tonekaboni SH, Karimzadeh P, Ahmadabadi F, Rahimian E, Panjeshahi S, Miryounesi M.   +7 more
europepmc   +1 more source

Germline and somatic mosaicism in achondroplasia: Figure 1 [PDF]

Journal of Medical Genetics, 2000
SHIRLEY HENDERSON, DAVID SILLENCE, JOHN LOUGHLIN, BRUCE BENNETTS, BRYAN SYKES   +4 more
openaire   +1 more source

Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism. [PDF]

Hum Genome Var, 2017
Satoh C, Maekawa R, Kinoshita A, Mishima H, Doi M, Miyazaki M, Fukuda M, Takahashi H, Kondoh T, Yoshiura KI.   +9 more
europepmc   +1 more source

Mosaicism in Marfan Syndrome: Clinical Implications and Variant Allele Frequency Interpretation in a Narrative Review. [PDF]

Cureus
Arakawa K, Ishida H, Takashima A, Utsumi T.   +3 more
europepmc   +1 more source

Toward the genetic landscape of prostate cancer in India: insights from whole-exome and low-pass whole-genome sequencing of formalin-fixed paraffin-embedded tumor tissues. [PDF]

Front Syst Biol
Biswas S, Rajarathinam B, Khilwani B, Jalendra G, Sharma D, Vijavargiya M, Aradhya R, Ansari AS, Shukla N, Chaubey G, Lohiya NK, Suravajhala P, CA Prostate Consortium of India (CAPCI).   +12 more
europepmc   +1 more source