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Central Nervous System Embryogenesis and Its Failures.
- Published in:
- Pediatric & Developmental Pathology, 2002, v. 5, n. 5, p. 425, doi. 10.1007/s10024-002-0003-3
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- Publication type:
- Article
Holoprosencephaly: from Homer to Hedgehog.
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- Clinical Genetics, 1998, v. 53, n. 3, p. 155, doi. 10.1111/j.1399-0004.1998.tb02666.x
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- Publication type:
- Article
Reciprocal Mouse and Human Limb Phenotypes Caused by Gain- and Loss-of-Function Mutations....
- Published in:
- Genetics, 2001, v. 159, n. 2, p. 715, doi. 10.1093/genetics/159.2.715
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- Publication type:
- Article
Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene‐specific.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 154, doi. 10.1002/ajmg.c.31770
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- Publication type:
- Article
Holoprosencephaly flashcards: An updated summary for the clinician.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 117, doi. 10.1002/ajmg.c.31621
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- Publication type:
- Article
Syndromes associated with holoprosencephaly.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 229, doi. 10.1002/ajmg.c.31620
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- Publication type:
- Article
Molecular testing in holoprosencephaly.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 187, doi. 10.1002/ajmg.c.31617
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- Publication type:
- Article
Challenging issues arising in counseling families experiencing holoprosencephaly.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 238, doi. 10.1002/ajmg.c.31627
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- Publication type:
- Article
Introduction.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 113, doi. 10.1002/ajmg.c.31626
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- Publication type:
- Article
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 175, doi. 10.1002/ajmg.c.31622
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- Publication type:
- Article
Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 246, doi. 10.1002/ajmg.c.31616
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- Publication type:
- Article
Holoprosencephaly in the genomics era.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 165, doi. 10.1002/ajmg.c.31615
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- Publication type:
- Article
Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2411, doi. 10.1002/ajmg.a.63317
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- Publication type:
- Article
Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 271, doi. 10.1002/ajmg.a.63013
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- Publication type:
- Article
Love in the time of COVID‐19.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1299, doi. 10.1002/ajmg.a.61623
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- Publication type:
- Article
Tuberous sclerosis in a patient from Nigeria.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1423, doi. 10.1002/ajmg.a.61194
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- Publication type:
- Article
Introducing in AJMG Part A: Genetic Syndromes in Adults.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1413, doi. 10.1002/ajmg.a.61141
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- Article
Onward and upward.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1119, doi. 10.1002/ajmg.a.61207
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- Article
Early inspirations from times gone by.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1797, doi. 10.1002/ajmg.a.40474
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- Publication type:
- Article
Introducing in AJMG Part A: Case reports in diverse populations.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1547, doi. 10.1002/ajmg.a.40353
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- Publication type:
- Article
Standing on the shoulders of giants.
- Published in:
- 2017
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- Publication type:
- Editorial
Muenke syndrome: An international multicenter natural history study.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 918, doi. 10.1002/ajmg.a.37528
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- Publication type:
- Article
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2657, doi. 10.1002/ajmg.a.37259
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- Publication type:
- Article
Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 453, doi. 10.1002/ajmg.a.35233
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- Publication type:
- Article
Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1244, doi. 10.1002/ajmg.a.35207
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- Publication type:
- Article
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2713, doi. 10.1002/ajmg.a.34261
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- Publication type:
- Article
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
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- Nature Genetics, 2008, v. 40, n. 11, p. 1348, doi. 10.1038/ng.230
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- Article
Cbfβ interacts with Runx2 and has a critical role in bone development.
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- Nature Genetics, 2002, v. 32, n. 4, p. 639, doi. 10.1038/ng1050
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- Article
The pit, the cleft and the web.
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- Nature Genetics, 2002, v. 32, n. 2, p. 219, doi. 10.1038/ng1002-219
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- Publication type:
- Article
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 365, doi. 10.1038/81695
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- Publication type:
- Article
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
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- Nature Genetics, 2000, v. 25, n. 2, p. 205, doi. 10.1038/76074
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- Publication type:
- Article
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
- Published in:
- Nature Genetics, 1999, v. 22, n. 2, p. 196, doi. 10.1038/9718
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- Publication type:
- Article
Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.
- Published in:
- 2017
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- Publication type:
- journal article
Semilobar holoprosencephaly in a 46,XY female fetus.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 10, p. 839, doi. 10.1002/pd.151
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- Publication type:
- Article
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
- Published in:
- Child's Nervous System, 2012, v. 28, n. 9, p. 1447, doi. 10.1007/s00381-012-1756-2
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- Publication type:
- Article
Phenotype profile of a genetic mouse model for Muenke syndrome.
- Published in:
- Child's Nervous System, 2012, v. 28, n. 9, p. 1483, doi. 10.1007/s00381-012-1778-9
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- Publication type:
- Article
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension.
- Published in:
- 2011
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- Publication type:
- Report
Unique Alterations of an Ultraconserved Non-Coding Element in the 3'UTR of ZIC2 in Holoprosencephaly.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0039026
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- Publication type:
- Article
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 2, p. 131, doi. 10.1111/dmcn.12038
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- Publication type:
- Article
Clinical epidemiology of congenital heart disease in Nigerian children, 2012–2017.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 16, p. 1233, doi. 10.1002/bdr2.1361
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- Article
A common genetic network underlies substance use disorders and disruptive or externalizing disorders.
- Published in:
- Human Genetics, 2012, v. 131, n. 6, p. 917, doi. 10.1007/s00439-012-1164-4
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- Article
The genetics of addiction.
- Published in:
- 2012
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- Publication type:
- Editorial
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
- Published in:
- Human Genetics, 2012, v. 131, n. 2, p. 301, doi. 10.1007/s00439-011-1078-6
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- Publication type:
- Article
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
- Published in:
- Human Genetics, 2010, v. 127, n. 5, p. 555, doi. 10.1007/s00439-010-0797-4
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- Publication type:
- Article
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
- Published in:
- Human Genetics, 2009, v. 125, n. 4, p. 393, doi. 10.1007/s00439-009-0628-7
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- Publication type:
- Article
FISH diagnosis of the common 57-kb deletion inCTNScausing cystinosis.
- Published in:
- Human Genetics, 2004, v. 115, n. 6, p. 510, doi. 10.1007/s00439-004-1170-2
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- Publication type:
- Article
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 170, doi. 10.1007/s00439-003-0950-4
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- Publication type:
- Article
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- Published in:
- 2002
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- Publication type:
- Erratum
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
- Published in:
- Human Genetics, 2002, v. 110, n. 5, p. 422, doi. 10.1007/s00439-002-0709-3
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- Publication type:
- Article
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 297, doi. 10.1007/s00439-002-0695-5
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- Publication type:
- Article