ArticleAmerican journal of medical genetics. Part A2007
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.
Article in American journal of medical genetics. Part A, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.European journal of human genetics : EJHG · 2019Trial
- Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance.Clinical genetics · 2026Review
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.Human molecular genetics · 2023Article
- Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.Children (Basel, Switzerland) · 2022Review
- Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.Disease models & mechanisms · 2021Review
- Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.Orphanet journal of rare diseases · 2020Review
- Copy Number Variations in Female Infertility in China.Balkan journal of medical genetics : BJMG · 2019Article
- Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2019Article
- Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Article
- Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.Journal of medical case reports · 2016Review
- 22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report.Frontiers in medicine · 2016Article
- 22q11.2 deletion syndrome.Nature reviews. Disease primers · 2015Review
- TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia.Orphanet journal of rare diseases · 2013Article
- Evaluation of SHOX copy number variations in patients with Müllerian aplasia.Orphanet journal of rare diseases · 2011Article
- Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.Orphanet journal of rare diseases · 2011Article
- High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.Journal of medical genetics · 2011Article
- Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).Wiener klinische Wochenschrift · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
The classic clinical features in the 22q11.2 deletion syndrome are congenital heart defects, hypocalcemia, immunodeficiency, learning, speech, and behavioral difficulties. The phenotype is highly variable and continues to expand. We present two cases of absent uterus and unilateral renal agenesis in females with the 22q11.2 deletion. Clinicians caring for these adolescents should be aware of the possibility of renal anomalies and Mullerian agenesis. The diagnosis of 22q11.2 deletion may be considered in a female with Mullerian agenesis, particularly, in association with a history of learning difficulties and speech delay.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.