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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
(2020)
The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have ...
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
(American Society of Human Genetics by Elsevier Inc., 2020-01)
The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have ...
Identification and quantification of oligogenic loss-of-function disorders
(2021)
Purpose: Monogenic disorders can present clinically heterogeneous symptoms. We hypothesized that in patients with a monogenic disorder caused by a large deletion, frequently additional loss-of-function (LOF)-intolerant ...
Follow-up of an intelligent odd-mannered teenager with del(3)(p26). Remarks on authorship and ethical commitment
(2006)
A male teenager formerly found to have a 46,XY,del(3)(p26)de novo karyotype was restudied. At the age of 148/12 yr, he attends the last grade of middle school and was a cooperating teenager with slender habitus, severe ...
Identification and quantification of oligogenic loss-of-function disorders
(2021)
Purpose: Monogenic disorders can present clinically heterogeneous symptoms. We hypothesized that in patients with a monogenic disorder caused by a large deletion, frequently additional loss-of-function (LOF)-intolerant ...
Follow-up of an intelligent odd-mannered teenager with del(3)(p26). Remarks on authorship and ethical commitment
(2006)
A male teenager formerly found to have a 46,XY,del(3)(p26)de novo karyotype was restudied. At the age of 148/12 yr, he attends the last grade of middle school and was a cooperating teenager with slender habitus, severe ...
Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia
(2002)
We report a boy with Down syndrome and leukemia who acquired uniparental isodisomy of chromosome 7q as a secondary chromosomal change during recurrence of the disease. His karyotype before therapy was 46,XY,der(1)t(1;1)( ...
A highly complex rea(2;3;11) and aniridia by position effect
(2013)
Simultaneous Location and Mapping (SLAM) is a key problem to solve in order to build truly autonomous mobile robots. SLAM with a unique camera, or monocular SLAM, is probably one of the most complex SLAM variants, based ...
Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia
(2002)
We report a boy with Down syndrome and leukemia who acquired uniparental isodisomy of chromosome 7q as a secondary chromosomal change during recurrence of the disease. His karyotype before therapy was 46,XY,der(1)t(1;1)( ...