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Keywords: Holoprosencephaly
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Journal Articles

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Viviane Freitas de Castro, Daniel Mattos, Flavia Martinez de Carvalho, Denise Pontes Cavalcanti, Milagros M. Duenas-Roque, Juan Llerena Jr, Viviana Raquel Cosentino, Rachel Sayuri Honjo, Julio Cesar Loguercio Leite, Maria Teresa Sanseverino, Márcia Pereira Alves de Souza, Pricila Bernardi, Ana Maria Bolognese, Luiz Carlos Santana da Silva, Pablo Barbero, Patricia Santana Correia, Larissa Souza Mario Bueno, Clarice Pagani Savastano, Iêda Maria Orioli
Journal: Molecular Syndromology
Mol Syndromol (2021) 12 (4): 219–233.
https://doi.org/10.1159/000515044
Published Online: 15 June 2021
... Maria Bolognese; Luiz Carlos Santana da Silva; Pablo Barbero; Patricia Santana Correia; Larissa Souza Mario Bueno; Clarice Pagani Savastano; Iêda Maria Orioli Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects...
View article titled, New SHH and Known SIX3 Variants in a Series of Latin American Patients with <span class="search-highlight">Holoprosencephaly</span>
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Journal Articles

7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Vassilis Paspaliaris, Nikolaos Vrachnis, Zoe Iliodromiti, Nikolaos Antonakopoulos, Giorgos Papaioannou, Nikolaos Vlachadis, Foteini Anastasiadou, Sotirios Sotiriou, Antonios Garas, Lorreta Thomaidis, Emmanouil Manolakos
Journal: Molecular Syndromology
Mol Syndromol (2017) 9 (1): 52–57.
https://doi.org/10.1159/000481972
Published Online: 24 November 2017
...Vassilis Paspaliaris; Nikolaos Vrachnis; Zoe Iliodromiti; Nikolaos Antonakopoulos; Giorgos Papaioannou; Nikolaos Vlachadis; Foteini Anastasiadou; Sotirios Sotiriou; Antonios Garas; Lorreta Thomaidis; Emmanouil Manolakos Holoprosencephaly (HPE) spectrum disorder is the most common congenital...
View article titled, 7q Deletion&#x2F;12q Duplication Is the Possible Cause of an Alobar <span class="search-highlight">Holoprosencephaly</span> Case
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Journal Articles

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
C. Coutton, B. Poreau, F. Devillard, C. Durand, S. Odent, C. Rozel, G. Vieville, F. Amblard, P.-S. Jouk, V. Satre
Journal: Molecular Syndromology
Mol Syndromol (2014) 5 (1): 25–31.
https://doi.org/10.1159/000355391
Published Online: 02 October 2013
...C. Coutton; B. Poreau; F. Devillard; C. Durand; S. Odent; C. Rozel; G. Vieville; F. Amblard; P.-S. Jouk; V. Satre Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon and can be caused by environmental and genetic...
View article titled, Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene
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Journal Articles

High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
B.D. Solomon, D.E. Pineda-Alvarez, A.L. Gropman, M.J. Willis, D.W. Hadley, M. Muenke
Journal: Molecular Syndromology
Mol Syndromol (2012) 3 (3): 140–142.
https://doi.org/10.1159/000341373
Published Online: 26 July 2012
...B.D. Solomon; D.E. Pineda-Alvarez; A.L. Gropman; M.J. Willis; D.W. Hadley; M. Muenke Holoprosencephaly is the most common malformation of the forebrain and typically results in severe neurocognitive impairment with accompanying midline facial anomalies. Holoprosencephaly is heterogeneous and may...
View article titled, High Intellectual Function in Individuals with Mutation-Positive Microform <span class="search-highlight">Holoprosencephaly</span>
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Journal Articles

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
K. Vaaralahti, T. Raivio, R. Koivu, L. Valanne, E.-M. Laitinen, J. Tommiska
Journal: Molecular Syndromology
Mol Syndromol (2012) 3 (1): 1–5.
https://doi.org/10.1159/000338706
Published Online: 16 May 2012
...K. Vaaralahti; T. Raivio; R. Koivu; L. Valanne; E.-M. Laitinen; J. Tommiska Patients with Kallmann syndrome (KS; congenital hypogonadotropic hypogonadism and decreased/absent sense of smell), septo-optic dysplasia (SOD), or holoprosencephaly (HPE) reportedly have midline defects. In this study, we...
View article titled, Genetic Overlap between <span class="search-highlight">Holoprosencephaly</span> and Kallmann Syndrome
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Journal Articles

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
A.A. Keaton, B.D. Solomon, E.F. Kauvar, K.B. El-Jaick, A.L. Gropman, Y. Zafer, J.M. Meck, S.J. Bale, D.K. Grange, B.R. Haddad, G.C. Gowans, N.J. Clegg, M.R. Delgado, J.S. Hahn, D.E. Pineda-Alvarez, F. Lacbawan, J.I. Vélez, E. Roessler, M. Muenke
Journal: Molecular Syndromology
Mol Syndromol (2011) 1 (5): 211–222.
https://doi.org/10.1159/000328203
Published Online: 18 May 2011
...A.A. Keaton; B.D. Solomon; E.F. Kauvar; K.B. El-Jaick; A.L. Gropman; Y. Zafer; J.M. Meck; S.J. Bale; D.K. Grange; B.R. Haddad; G.C. Gowans; N.J. Clegg; M.R. Delgado; J.S. Hahn; D.E. Pineda-Alvarez; F. Lacbawan; J.I. Vélez; E. Roessler; M. Muenke Holoprosencephaly (HPE), which results from failed...
View article titled, TGIF Mutations in Human <span class="search-highlight">Holoprosencephaly</span>: Correlation between Genotype and Phenotype
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Journal Articles

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
R.F. Arauz, B.D. Solomon, D.E. Pineda-Alvarez, A.L. Gropman, J.A. Parsons, E. Roessler, M. Muenke
Journal: Molecular Syndromology
Mol Syndromol (2010) 1 (2): 59–66.
https://doi.org/10.1159/000302285
Published Online: 22 April 2010
...R.F. Arauz; B.D. Solomon; D.E. Pineda-Alvarez; A.L. Gropman; J.A. Parsons; E. Roessler; M. Muenke Holoprosencephaly (HPE), the most common malformation of the human forebrain, may arise due to interacting genetic and environmental factors. To date, at least 12 contributory genes have been...
View article titled, A Hypomorphic Allele in the FGF8 Gene Contributes to <span class="search-highlight">Holoprosencephaly</span> and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans
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