[HTML][HTML] Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
… accompanied by clinical and molecular variability, determining a … cytogenetic and clinical
information on large series of … studies, in that eight out of nine of our patients presented a …
information on large series of … studies, in that eight out of nine of our patients presented a …
[图书][B] Zitelli and Davis' Atlas of Pediatric Physical Diagnosis, E-Book: Zitelli and Davis' Atlas of Pediatric Physical Diagnosis, E-Book
SC McIntire, AJ Nowalk, J Garrison, BJ Zitelli - 2021 - books.google.com
… chromosomes are called the X and Y chromosomes, and … , means that on cytogenetic analysis
the structural abnormality does … balanced chromosome translocations, de novo or familial, …
the structural abnormality does … balanced chromosome translocations, de novo or familial, …
[HTML][HTML] Clinicopathological findings on 28 cases with XP11. 2 renal cell carcinoma
… characteristic cytogenetic change is the translocation involving the MIT family transcription
… has low sensitivity for intrachromosomal or paracentric inversions like in RBM10-TFE3 and …
… has low sensitivity for intrachromosomal or paracentric inversions like in RBM10-TFE3 and …
Preimplantation genetic testing: recent advances in reproductive medicine
DK Griffin, GL Harton - 2020 - books.google.com
… The use of various molecular cytogenetic methods for PGT of … review of the family medical
history, patients’ medical records, … to detect the presence of the Y chromosome and hence also …
history, patients’ medical records, … to detect the presence of the Y chromosome and hence also …
[HTML][HTML] A genetic basis for cancer sex differences revealed in Xp11 translocation renal cell carcinoma
… factor in the MiT/TFE family. TFE3 fusions typically occur in-frame … : (1) paracentric inversion
on Xp (2 cases); (2) pericentric … We are deeply grateful to the patients and their families for …
on Xp (2 cases); (2) pericentric … We are deeply grateful to the patients and their families for …
[HTML][HTML] Molecular genetics of renal cell tumors: A practical diagnostic approach
R Alaghehbandan, D Perez Montiel, AS Luis, O Hes - Cancers, 2019 - mdpi.com
… and loss of the Y chromosome in male patients. PRCC type 2 is … Both familiar and sporadic
tumors have molecular alterations … ; Farrow, GM; Jenkins, RB Cytogenetic analysis of six renal …
tumors have molecular alterations … ; Farrow, GM; Jenkins, RB Cytogenetic analysis of six renal …
[PDF][PDF] FROM CLINIC GENETICS AND CYTOGENETICS TO MODERN METHODS IN MEDICAL GENETICS
DREV GORDUZA - umfiasi.ro
… of molecular cytogenetic techniques in selected cases with … complications in patients and
for identifying other family members … in patients with gonadal dysgenesis or intersex condition; …
for identifying other family members … in patients with gonadal dysgenesis or intersex condition; …
Smith–Magenis Syndrome
ACM Smith, AL Gropman - Cassidy and Allanson's …, 2021 - Wiley Online Library
… improved molecular cytogenetic techniques, and these studies … Overall, stress and
parent‐family problems were inversely … have contrasted cognitive and social func tioning of …
parent‐family problems were inversely … have contrasted cognitive and social func tioning of …
41 Exercise and pregnancy
R Artal - Clinical Maternal-Fetal Medicine, 2021 - books.google.com
… habits that could influence close family and offspring; this has … Newer molecular cytogenetic
methods have revolutionized the … There may be portions of a Y chromosome present or …
methods have revolutionized the … There may be portions of a Y chromosome present or …
The 2020 WHO classification: what's new in soft tissue tumor pathology?
ME Kallen, JL Hornick - The American journal of surgical …, 2021 - journals.lww.com
… updated prognostic information for familiar tumor types, such as … Cytogenetic studies have
identified a distinctive … resulting from a paracentric inversion within chromosome 12q. The …
identified a distinctive … resulting from a paracentric inversion within chromosome 12q. The …