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Maternal cell contamination of buccal smear samples in nursing neonates.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 2, p. 114, doi. 10.1111/j.1399-0004.1998.tb02657.x
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- Publication type:
- Article
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 10, p. 651, doi. 10.1177/0883073818778203
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- Publication type:
- Article
Neurodevelopmental Disabilities in Children With Intermediate and Premutation Range Fragile X Cytosine-Guanine-Guanine Expansions.
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- Journal of Child Neurology, 2014, v. 29, n. 3, p. 326, doi. 10.1177/0883073812469723
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- Publication type:
- Article
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
- Published in:
- Human Genetics, 2024, v. 143, n. 5, p. 649, doi. 10.1007/s00439-024-02664-3
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- Publication type:
- Article
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
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- Human Genetics, 2021, v. 140, n. 12, p. 1775, doi. 10.1007/s00439-021-02384-y
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- Publication type:
- Article
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 7, p. 516, doi. 10.1038/jhg.2011.51
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- Publication type:
- Article
Implementing individualized medicine into the medical practice.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 1, p. 15, doi. 10.1002/ajmg.c.31387
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- Publication type:
- Article
Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 911, doi. 10.1002/ajmg.a.62575
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- Publication type:
- Article
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2417, doi. 10.1002/ajmg.a.62347
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- Publication type:
- Article
Detection of Gonadal Mosaicism in Hartsfield Syndrome by Next Generation Sequencing.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3359, doi. 10.1002/ajmg.a.37869
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- Publication type:
- Article
Update from the 2013 international neurofibromatosis conference.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 2969, doi. 10.1002/ajmg.a.36754
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- Publication type:
- Article
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2356, doi. 10.1002/ajmg.a.36621
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- Publication type:
- Article
A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male-male transmission.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2292, doi. 10.1002/ajmg.a.35497
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- Publication type:
- Article
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 193, doi. 10.1002/ajmg.a.34360
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- Publication type:
- Article
The Case | Renal dysfunction in a pregnant patient with IgA nephropathy.
- Published in:
- Kidney International, 2014, v. 85, n. 6, p. 1477, doi. 10.1038/ki.2013.322
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- Publication type:
- Article
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
- Published in:
- Nature Genetics, 2014, v. 46, n. 2, p. 182, doi. 10.1038/ng.2855
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- Publication type:
- Article
Anesthetic implications of ornithine transcarbamylase deficiency.
- Published in:
- Pediatric Anesthesia, 2010, v. 20, n. 7, p. 666, doi. 10.1111/j.1460-9592.2010.03322.x
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- Publication type:
- Article
Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation.
- Published in:
- Pituitary, 2012, v. 15, n. 3, p. 342, doi. 10.1007/s11102-011-0325-0
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- Publication type:
- Article
Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.78653
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- Publication type:
- Article
Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 3/4, p. 369, doi. 10.1515/jpem-2012-0255
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- Publication type:
- Article
David B. Schowalter, MD, PhD March 25, 1960 - August 11, 2007.
- Published in:
- Wisconsin Medical Journal, 2007, v. 106, n. 8, p. 433
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- Publication type:
- Article
Physical therapy-induced rhabdomyolysis and acute kidney injury associated with reduced activity of muscle lactate dehydrogenase A.
- Published in:
- Arthritis Care & Research, 2011, v. 63, n. 12, p. 1782, doi. 10.1002/acr.20584
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- Publication type:
- Article
Clinical and Mutational Spectrum of Neurofibromatosis Type 1--like Syndrome.
- Published in:
- JAMA: Journal of the American Medical Association, 2009, v. 302, n. 19, p. 2111, doi. 10.1001/jama.2009.1663
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- Publication type:
- Article
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 11, p. 3210, doi. 10.1093/brain/awq261
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- Publication type:
- Article
Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.
- Published in:
- Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2017, v. 16, n. 6, p. 970, doi. 10.5604/01.3001.0010.5290
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- Publication type:
- Article
Laboratory Diagnosis of Congenital Disorders of Glycosylation Type I by Analysis of Transferrin Glycoforms.
- Published in:
- Molecular Diagnosis & Therapy, 2007, v. 11, n. 5, p. 303, doi. 10.1007/BF03256251
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- Publication type:
- Article
Audit of Gastrointestinal Manifestations in Patients with Loeys–Dietz Syndrome and Vascular Ehlers–Danlos Syndrome.
- Published in:
- Digestive Diseases & Sciences, 2021, v. 66, n. 4, p. 1142, doi. 10.1007/s10620-020-06265-8
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- Publication type:
- Article
RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.560
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- Publication type:
- Article
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 269, doi. 10.1002/mgg3.283
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- Publication type:
- Article
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 2, p. 141, doi. 10.1002/mgg3.268
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- Publication type:
- Article
Long-Term Outcomes in Patients With Turner Syndrome: A 68-Year Follow-Up.
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- 2019
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- Publication type:
- journal article
SPECC1L regulates palate development downstream of IRF6.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 5, p. 845, doi. 10.1093/hmg/ddaa002
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- Publication type:
- Article
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 1, doi. 10.1093/hmg/dds371
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- Publication type:
- Article
Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.
- Published in:
- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-19
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- Publication type:
- Article
Phase II trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 9, p. 1598, doi. 10.1002/pbc.25041
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- Publication type:
- Article
Neurofibromatosis 2011: a report of the Children's Tumor Foundation Annual Meeting.
- Published in:
- 2012
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- Publication type:
- Report
An association of peripheral nerve sheath tumors and lipomas.
- Published in:
- Acta Neurochirurgica, 2017, v. 159, n. 1, p. 185, doi. 10.1007/s00701-016-3038-3
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- Publication type:
- Article
Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 855, doi. 10.1002/ajmg.a.33901
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- Publication type:
- Article
Precision oncology in neurofibromatosis type 1: quantification of differential sensitivity to selumetinib in plexiform neurofibromas using single-cell RNA sequencing.
- Published in:
- Journal of Neuro-Oncology, 2024, v. 169, n. 1, p. 147, doi. 10.1007/s11060-024-04711-5
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- Publication type:
- Article
Characterizing T-cell dysfunction and exclusion signatures in malignant peripheral nerve sheath tumors reveals susceptibilities to immunotherapy.
- Published in:
- Journal of Neuro-Oncology, 2023, v. 164, n. 3, p. 693, doi. 10.1007/s11060-023-04467-4
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- Publication type:
- Article
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 299, doi. 10.1002/humu.23929
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- Publication type:
- Article
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
- Published in:
- Human Mutation, 2015, v. 36, n. 11, p. 1052, doi. 10.1002/humu.22832
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- Publication type:
- Article
Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis Type 2.
- Published in:
- Journal of Neurosurgery, 2010, v. 112, n. 1, p. 81, doi. 10.3171/2009.6.JNS09105
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- Publication type:
- Article
Bilateral pheochromocytoma: Clinical characteristics, treatment and longitudinal follow‐up.
- Published in:
- Clinical Endocrinology, 2020, v. 93, n. 3, p. 288, doi. 10.1111/cen.14222
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- Publication type:
- Article
Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1.
- Published in:
- Clinical Endocrinology, 2017, v. 86, n. 1, p. 141, doi. 10.1111/cen.13163
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- Publication type:
- Article
Fulminant hepatic failure in a neonate with systemic echovirus infection.
- Published in:
- Acta Medica Academica, 2011, v. 40, n. 1, p. 75, doi. 10.5644/ama2006-124.10
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- Publication type:
- Article