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Enhancing the Classification of Congenital Heart Defects for Outcome Association Studies in Birth Defects Registries.
- Published in:
- Birth Defects Research, 2024, v. 116, n. 8, p. 1, doi. 10.1002/bdr2.2393
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- Article
Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011.
- Published in:
- 2019
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- Publication type:
- journal article
Case report: Extending the spectrumof clinical andmolecular ?ndings in FOXC1 haploinsufficiency syndrome.
- Published in:
- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1174046
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- Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
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- Publication type:
- Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
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- Publication type:
- Article
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 55, doi. 10.1093/brain/awz379
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- Publication type:
- Article
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
- Published in:
- 2019
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- Publication type:
- journal article
The Active Malformations Surveillance Program, Boston in 1972-2012: Methodology and demographic characteristics.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 2, p. 148, doi. 10.1002/bdr2.1156
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- Publication type:
- Article
Malformations Surveillance: Comparison between Findings at Birth and Age 1 Year.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 2, p. 142, doi. 10.1002/bdr2.1096
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- Publication type:
- Article
Causes of Congenital Malformations.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 2, p. 87, doi. 10.1002/bdr2.1105
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- Publication type:
- Article
Alternatives to Autopsy for Fetal and Early Neonatal (Perinatal) Deaths: Insights from the Wisconsin Stillbirth Service Program.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 18, p. 1430, doi. 10.1002/bdr2.1112
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- Publication type:
- Article
Assisted Reproductive Technology and Birth Defects: Effects of Subfertility and Multiple Births.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 14, p. 1144, doi. 10.1002/bdr2.1055
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- Publication type:
- Article
An application of data mining to identify potential risk factors for anophthalmia and microphthalmia.
- Published in:
- 2018
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- Publication type:
- journal article
CHARGE Association: An update and review for the primary ...
- Published in:
- Clinical Pediatrics, 1998, v. 37, n. 3, p. 159, doi. 10.1177/000992289803700302
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- Publication type:
- Article
Airway Foreign Body.
- Published in:
- 1982
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- Publication type:
- Letter
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
- Published in:
- European Journal of Endocrinology, 2017, v. 177, n. 3, p. G1, doi. 10.1530/EJE-17-0430
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- Publication type:
- Article
LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 3, p. 777, doi. 10.1007/s10815-022-02457-5
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- Publication type:
- Article
Further Delineation of Liver Involvement in Girls and Women with Turner Syndrome: Case Report of a 2-Year-Old with Liver Dysfunction and Review of Patients Followed in the MassGeneral Hospital Turner Syndrome Clinic.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 5, p. 328, doi. 10.1159/000502842
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- Publication type:
- Article
Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 107, doi. 10.1002/ajmg.c.31913
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- Publication type:
- Article
The earliest depictions of a PIK3CA‐Related Overgrowth Spectrum disorder: 17th‐18th century prints of women with severe limb overgrowth.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 168, doi. 10.1002/ajmg.c.31892
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- Publication type:
- Article
Depiction of ectrodactyly, sirenomelia and cyclopia in a figure by Hokusai.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 148, doi. 10.1002/ajmg.c.31850
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- Publication type:
- Article
Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 53, doi. 10.1002/ajmg.c.31760
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- Publication type:
- Article
"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 36, doi. 10.1002/ajmg.c.31671
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- Publication type:
- Article
Nablus syndrome: Easy to diagnose yet difficult to solve.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 447, doi. 10.1002/ajmg.c.31660
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- Publication type:
- Article
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
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- Prenatal Diagnosis, 2009, v. 29, n. 7, p. 682, doi. 10.1002/pd.2276
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- Publication type:
- Article
Prenatal ultrasound diagnosis of fetal scoliosis: Spndylothoracic/spondylocostal dysplasia?
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- Prenatal Diagnosis, 1989, v. 9, n. 6, p. 449, doi. 10.1002/pd.1970090616
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- Publication type:
- Article
Maternal exposure to heparin products and risk of birth defects in the National Birth Defects Prevention Study.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 2, p. 133, doi. 10.1002/bdr2.2074
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- Publication type:
- Article
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 1, p. 43, doi. 10.1002/bdr2.2003
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- Publication type:
- Article
The Value of Aortic Valve and Aortic Arch Imaging in the Identification of Genetic Syndromes.
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- Echocardiography, 1996, v. 13, n. 4, p. 447, doi. 10.1111/j.1540-8175.1996.tb00919.x
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- Publication type:
- Article
Cardiac transplantation in children with Noonan syndrome.
- Published in:
- Pediatric Transplantation, 2019, v. 23, n. 6, p. N.PAG, doi. 10.1111/petr.13535
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- Publication type:
- Article
Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2105, doi. 10.1002/ajmg.a.34156
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- Publication type:
- Article
An additional patient with mycophenolate mofetil embryopathy: Cardiac and facial analyses.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 748, doi. 10.1002/ajmg.a.33934
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- Publication type:
- Article
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 706, doi. 10.1002/ajmg.a.33884
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- Publication type:
- Article
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 486, doi. 10.1002/ajmg.a.33857
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- Publication type:
- Article
Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.
- Published in:
- 2021
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- Publication type:
- Letter
Survival to Young Adulthood Among Individuals With Congenital Heart Defects and Genetic Syndromes: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being.
- Published in:
- Journal of the American Heart Association, 2024, v. 13, n. 15, p. 1, doi. 10.1161/JAHA.124.036049
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- Publication type:
- Article
Writing for Scientific Publication: Tips for Getting Started.
- Published in:
- Clinical Pediatrics, 2006, v. 45, n. 4, p. 295, doi. 10.1177/000992280604500401
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- Publication type:
- Article
Letter to the Editor.
- Published in:
- Cardiology in the Young, 1996, v. 6, n. 2, p. 194, doi. 10.1017/S1047951100003620
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- Publication type:
- Article
Atlantoaxial instability associated with ALDH18A1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2898, doi. 10.1002/ajmg.a.63388
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- Publication type:
- Article
Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein‐1 (LMP‐1).
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2164, doi. 10.1002/ajmg.a.63304
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- Publication type:
- Article
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: A report from the National Birth Defects Prevention Network.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1339, doi. 10.1002/ajmg.a.63181
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- Publication type:
- Article
An additional patient with SMAD4‐Juvenile Polyposis‐Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss‐of‐function and gain‐of‐function pathogenic variants result in contrasting phenotypes
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3084, doi. 10.1002/ajmg.a.62915
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- Publication type:
- Article
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1384, doi. 10.1002/ajmg.a.62645
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- Publication type:
- Article
Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2136, doi. 10.1002/ajmg.a.62194
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- Publication type:
- Article
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1486, doi. 10.1002/ajmg.a.62146
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- Publication type:
- Article
Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945–2020).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 319, doi. 10.1002/ajmg.a.61963
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- Publication type:
- Article
Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 328, doi. 10.1002/ajmg.a.61430
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- Publication type:
- Article
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1987, doi. 10.1002/ajmg.a.61310
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- Publication type:
- Article
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1725, doi. 10.1002/ajmg.a.61270
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- Publication type:
- Article
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2435, doi. 10.1002/ajmg.a.40470
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- Publication type:
- Article