*  GUIDELINES ON MALE INFERTILITY European Association of Urology
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat ... In up to 63% of supposedly heterozygous cases, a DNA variant known as the 5t allele can be detected in a non-coding region of ... Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X,Y ... immature female phenotype Genetic basis Deletion of 15q12 on paternally inherited chromosome Autosomal recessive syndrome, q21 ...
  http://spotidoc.com/doc/18431/iris-children-s-school
*  Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome...
Chromosome 22q11.2 heterozygous deletions cause the most common deletion syndrome, including the DiGeorge syndrome phenotype. ... Chromosome 22q11.2 heterozygous deletions cause the most common deletion syndrome, including the DiGeorge syndrome phenotype. ... Using a mouse model of this deletion (named Df1) we show that the aortic arch patterning defects that occur in heterozygously ... Using a mouse model of this deletion (named Df1) we show that the aortic arch patterning defects that occur in heterozygously ...
  http://oxfordindex.oup.com/view/10.1093/hmg/10.9.997
*  FZD9 polyclonal antibody - (PAB26216) - Products - Abnova
The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the ...
  http://www.abnova.com/products/products_detail.asp?catalog_id=PAB26216
*  Patent US5985549 - Non-isotopic in-situ hybridization method for detection of nucleic acids - Google Patents
... or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. The methods ... predisposition to develop intestinal polyps which is associated with a heterozygous deletion of a region of human Chromosome 5 ... and is able to distinguish between a heterozygous deletion (only one homologue affected) and a homozygous deletion (both ... Fixation of Cellular Nuclei and Chromosomes. The purpose of fixing cellular nuclei or chromosomes is to preserve the nucleic ...
  http://www.google.com/patents/US5985549?dq=5,072,412
*  Bilateral frontoparietal polymicrogyria - Wikipedia
Diagnostic criteria for a BFPP patient entails a heterozygous genotype for a deletion of chromosome 16q12.1-q21 region, ... "Bilateral Frontoparietal Polymicrogyria (BFPP) Syndrome Secondary to a 16q12.1-q21 Chromosome Deletion Involving GPR56 Gene." ... To date, a total of fourteen BFPP-associated mutations have been identified, including one deletion, two splicing, and eleven ...
  https://en.wikipedia.org/wiki/Bilateral_frontoparietal_polymicrogyria
*  CHAPTER 119 HEREDITARY QUALITATIVE PLATELET DISORDERS | Free Medical Textbook
Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. Pediatr Res 44:607, 1998 ... and another patient has been described who is heterozygous for this deletion and a missense mutation of GPIba.236,238,239,247 ... De La Salle C, Baas M-J, Lanza F, et al: A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet ... Heterozygous point mutations in the GPIba DNA (Gly233 ® Val and Met239 ® Val) have been found in several different families. ...
  https://medtextfree.wordpress.com/2012/02/09/chapter-119-hereditary-qualitative-platelet-disorders/
*  Most recent papers with the keyword cleft palate or lip | Read by QxMD
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is ... Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature, and developmental delay. Here, we ... predicted-to-result-in-haploinsufficiency-cause-craniofacial-skeletal-and-cardiac-features-overlapping-those-of-20p12-deletions ... and Cardiac Features Overlapping Those of 20p12 Deletions. ... truncating and frameshift BMP2 variants and deletions in 12 ...
  https://www.readbyqxmd.com/keyword/31687
*  FZD9 - Wikipedia
The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the ... human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at ...
  https://en.wikipedia.org/wiki/FZD9
*  Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions - Full Text View - ClinicalTrials.gov
The syndrome is caused by heterozygous contiguous gene deletions of variable size on chromosome 11, involving a region that ... Healthy normal volunteers, people with isolated aniridia, and people with WAGR or another chromosome 11 gene deletion may be ... Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions. This study has been completed. ... For WAGR/11p deletion subjects:. *Diagnosis of WAGR/11p deletion confirmed by prior genetic testing or clinical history ...
  https://clinicaltrials.gov/ct2/show/NCT00758108?recr=Open&cond=%22Wilms+Tumor%22&rank=17
*  HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase - Gene - GTR - NCBI
... and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3- ... Chromosome: 1; NC_000001.11 (23801877..23825459, complement). Total number of exons:. 9. ...
  https://www.ncbi.nlm.nih.gov/gtr/genes/3155/
*  Miller-Dieker syndrome
... (MDS) is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE ( ... Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. ... Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome]. ... Condition Summary: Microdeletion Syndromes; Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities ...
  http://www.diseaseinfosearch.org/result/4816
*  Plus it
... lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the ... Genes Chromosomes Cancer 2008; 47: 326-32.. OpenUrlCrossRefPubMed. *↵ Hirano K, Yamashita K, Yamashita N, et al. Non-Hodgkin's ... MMR is initiated by recognition of base-base mismatches and/or small insertion/deletion loops by heterodimeric complexes formed ... or T-cell lymphomas have been reported in hereditary nonpolyposis colorectal cancer patients with heterozygous mutations in ...
  http://cancerres.aacrjournals.org/content/69/10/4372
*  Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity | Diabetes
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010;463:671-675doi:10.1038/nature08727 ... In the three studies, probands were either compound heterozygous or homozygous for mutations in PCSK1. The eight heterozygous ... and the chromosome 16p deletion (39), PCSK1 is the third most prevalent contributor to extreme obesity in European populations ... All carriers were heterozygous. The clinical characteristics of each PCSK1 mutation carrier are reported in Supplementary Table ...
  http://diabetes.diabetesjournals.org/content/61/2/383.long?cited-by=yes&legid=diabetes
*  Plus it
18 carrying a heterozygous 1160(del26) deletion but different patterns of X chromosome inactivation in peripheral blood (skewed ... Associations between MECP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev 2002;8:99-105. ... a gene located on the long arm of the X chromosome (Xq28), which encodes the transcriptional repressor methyl-CpG-binding ...
  http://www.ajnr.org/content/29/3/436
*  Natural History Study of Smith-Magenis Syndrome - Full Text View - ClinicalTrials.gov
The majority of cases (~90%) are due to de novo interstitial deletion of chromosome 17p11.2 that includes the RAI1 (retinoic ... acid induced 1) gene; however, heterozygous RAI1 mutations account for about 10% of cases. While clinical variability exists, ... The deletion of chromosome 17p11.2 to find the gene or genes that cause SMS ... SMS is caused by a small chromosome 17p11.2 deletion (missing piece). The syndrome is associated with distinct physical, ...
  https://clinicaltrials.gov/ct2/show/NCT00013559?cond=%22Smith-Magenis+syndrome%22&rank=1
*  OpenAIRE - Publication: Heterozygous truncation mutati...
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: ... The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Missense ... variants and small in-frame deletions of SMC1A cause approximately 5% of Cornelia de Lange Syndrome (CdLS). Recently, protein ... Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: ...
  https://www.openaire.eu/search/publication?articleId=core_ac_uk__::18d6bff6cde1f35ca6643268041d18b1
*  Protocols and Video Articles Authored by William C. Mobley (Translated to Hebrew)
... we have generated novel mouse mutants carrying heterozygous deletions of the 2.3- and 1.1-Mb segments on mouse chromosome 10 ( ... Sequencing of human chromosome 21 (HSA21) and subsequently of its orthologues on mouse chromosome 16 have created an ... Human Chromosome 21 Orthologous Region on Mouse Chromosome 17 is a Major Determinant of Down Syndrome-related Developmental ... The regions on human chromosome 21 (Hsa21) are syntenically conserved on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. DSCR is ...
  https://www.jove.com/author/William+C._Mobley?language=Hebrew
*  Proven formula forex strategies
Very large deletions are usually lethal, even when heterozygous with a normal chromosome. Similar mutants were isolated by ... In the lysogenic cycle, rpoven phage chromosome forex signal generators a prophage incorporated into the host chromosome. The ... producing a many-stranded polytene chro- mosome. ...
  http://retzepti.ru/proven-formula-forex-strategies.html
*  Loss of AXIN1 drives acquired resistance to WNT pathway blockade in colorectal cancer cells carrying RSPO3 fusions | EMBO...
... trisomy of chromosome 8 and heterozygous deletion from 13q21.39 to 13q31.1. Moreover, a series of additional indels/mutations ... Ye K, Schulz MH, Long Q, Apweiler R, Ning Z (2009) Pindel: a pattern growth approach to detect break points of large deletions ... AXIN1 frameshift deletions confer acquired resistance to WNT pathway inhibition in RSPO3‐addicted cells. VACO6 cells, carrying ... To identify insertions and deletions (indels), we further analyzed the alignment files by comparing VACO6 and VACO6R cells ...
  http://d3gz45kfcn01zz.cloudfront.net/content/9/3/293
*  Abstracts from the British Association for the Study of the Liver Meeting Held on 13-14 September 2001 at the Royal Free...
The same heterozygous change was detected in the mother but not the father. A de novo deletion was confirmed by haplotype ... Paternity was confirmed by typing on 5 other chromosomes.. We believe the combined loss of one copy of ABCB11 and one or more ... These features, in the absence of liver disease, have been previously reported to be associated with heterozygous deletions of ... Despite the deletion of the hydrophobic region of the HCV E2 sequence protein secretion was not observed. Detectable levels of ...
  http://gut.bmj.com/content/50/5/e1
*  Analysis of Chromatin Structure of Genes Silenced by Heterochromatin in Trans | Genetics
... sequences within this deletion will amplify only regions on the opposite homolog when the csc2 chromosome is heterozygous with ... The third chromosome assayed here is a derivative of P{lacW}chrw with a flanking deletion that removes 17 kbp of sequences ... A) The P{lacW} transposon inserted near the chrw locus, 4.7 kbp from bwD on the opposite chromosome. A distal flanking deletion ... The wild-type chromosomes do not carry balancers and the + chromosome in the v; +/bwD control is from the Canton-S wild-type ...
  http://www.genetics.org/content/179/1/359
*  Plus it
... and 4 of 4 extrarenal tumors demonstrated heterozygous or homozygous deletions in the BCR to INI1 region of chromosome 22q11.2. ... We reported monosomy or deletion of chromosome 22 as the primary cytogenetic change in AT/RT of the brain (6) and, based on the ... To develop specific probes for the INI1 gene that could be used to detect deletions by FISH, we screened a chromosome 22-only ... In fact, the 22q11.2 region may be more prone to deletions because of the repeat sequences in this part of the chromosome. The ...
  http://cancerres.aacrjournals.org/content/59/1/74
*  Plus it
10 with heterozygous deletions, and 11 with copy number neutral LOH). Tumors with whole or large chromosome 22 deletions were ... B, case 01-146: complex duplications and deletions of chromosome 22 including a homozygous deletion in 22q11.2. C, case 07-221 ... both showed small chromosome 22 deletions distal to the INI1 locus). FISH, on the other hand, revealed a deletion of 22, with ... had homozygous deletions, 11 (10 brain and 1 renal) had heterozygous deletions, and 14 (10 brain, 1 spinal, 1 renal, and 2 soft ...
  http://clincancerres.aacrjournals.org/content/15/6/1923
*  DiGeorge syndrome - Wikipedia
22q11.2 deletion syndrome is caused by a heterozygous deletion of part of the long arm (q) of chromosome 22, region 1, band 1, ... Some cases of 22q11.2 deletion syndrome have defects in other chromosomes, notably a deletion in chromosome region 10p14. No ... In these cases a diagnosis of 22q11.2DS is confirmed by observation of a deletion of part of the long arm (q) of chromosome 22 ... DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as ...
  https://en.wikipedia.org/wiki/DiGeorge_syndrome
*  John Libbey Eurotext - Epileptic Disorders - Benign infantile seizures followed by autistic regression in a boy with 16p11.2...
... which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a ... Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion Volume 19, numéro 2, June 2017 *PDF ... 16p11.2 deletions are typically associated with intellectual disability, autism, and language disorders, and only rarely with ... and suggests that array CGH screening should be considered for affected infants in order to rule out deletions at 16p11.2 and ...
  http://www.jle.com/fr/revues/epd/e-docs/benign_infantile_seizures_followed_by_autistic_regression_in_a_boy_with_16p11.2_deletion_309752/article.phtml