Results 21 to 30 of about 322 (66)

sj-jpg-2-cpc-10.1177_10556656211050006 - Supplemental material for Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India

, 2021
Supplemental material, sj-jpg-2-cpc-10.1177_10556656211050006 for Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India by Rathika D.
Annelies Dheedene (673903), Dechamma Pandyanda Nanjappa (11626765), Gunimala Chakraborty (388725), Bert Callewaert (526777), Anirban Chakraborty (67617), Rathika D. Shenoy (11626762), Vikram Shetty (4810032), Björn Menten (105017), Anne de Paepe (11626768), Patrick Sips (9314012)   +9 more
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Mandibulofacial Dysostosis, Severe Lower Eyelid Coloboma, Cleft Palate, and Alopecia: A New Distinct Form of Mandibulofacial Dysostosis or a Severe Form of Johnson-McMillin Syndrome?

, 2010
We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss.
Maria Leine Guion-Almeida, Fernanda Sarquis Jehee, GUION-ALMEIDA, Maria Leine, Maria Rita Santos Passos-Bueno, Katia Rocha, ZECHI-CEIDE, Roseli Maria, ROCHA, Katia, PASSOS-BUENO, Maria Rita Santos, Roseli Maria Zechi-Ceide, JEHEE, Fernanda Sarquis   +9 more
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A importância do cirurgião-dentista no contexto multidisciplinar de paciente portador de disostose cleidocraniana: relato de caso clínico [PDF]

, 2020
Trabalho de Conclusão de Curso apresentado para obtenção do grau de Bacharel no Curso de Odontologia da Universidade do Extremo Sul Catarinense – UNESC.A Disostose Cleidocraniana, é também conhecida como Displasia Cleidocraniana (DDE) e corresponde a um ...
Mendes, Juliana Baldini
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Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. [PDF]

, 2009
Contains fulltext : 79589.pdf (Publisher’s version ) (Closed access)Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia ...
Kuechler, Alma, Nicole de Leeuw, de Leeuw, Nicole, Fischer, S., Wieczorek, Dagmar, Seland, Saskia, Lohmann, Dietmar R., Kuechler, A., Dagmar Wieczorek, Wieczorek, D., Gener, B., Leeuw, N. de, Hoefsloot, Lies H., Gillessen‐Kaesbach, Gabriele, Lies H. Hoefsloot, González, Ma Jesús Martínez, Ute Hehr, Saskia Seland, Gillessen-Kaesbach, G., Seland, S., Dietmar R. Lohmann, Gener, Blanca, Lohmann, D.R., Alma Kuechler, Fischer, Sven, Sven Fischer, Hoefsloot, L.H., Hehr, U., Hehr, Ute, Gonzalez, M.J., Blanca Gener, Ma Jesús Martínez González, Gabriele Gillessen‐Kaesbach   +32 more
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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction [PDF]

, 2015
We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1.
König, Rainer, Sund, Kristen L., Lohmann, Dietmar R., Wieczorek, Dagmar, Hehr, Ute, Hopkin, Robert J., Bender, Patricia L., Hufnagel, Robert B., Navajas Acedo, Joaquin, Lourenco, Charles M., Saal, Howard M., Trainor, Paul A., Watt, Kristin E. Noack, Weaver, K. Nicole, Linscott, Luke L.   +14 more
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sj-xlsx-1-cpc-10.1177_10556656221136177 - Supplemental material for A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

, 2022
Supplemental material, sj-xlsx-1-cpc-10.1177_10556656221136177 for A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type by Zulvikar Syambani Ulhaq, Gita Vita Soraya, Lola Ayu Istifiani, Syafrizal Aji Pamungkas, Ditya ...
Lina Fitria Astari (14042497), Muhammad A’raaf Sirojan Kusuma (14042506), Gita Vita Soraya (10909487), Sarah Herawangsa (14042512), Zulvikar Syambani Ulhaq (10909484), Prida Ayudianti (14042503), Lola Ayu Istifiani (12297116), Badariyatud Dini (14042494), Syafrizal Aji Pamungkas (12297119), Ditya Arisanti (14042491), Syifaus Shodry (14042509), Dian Kesumapramudya Nurputra (14042515), William Ka Fai Tse (10889586), Yuliono Trika Nur Hasan (14042500), Sri Idaiani (14042518)   +14 more
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A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report

, 2022
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear ...
Al-Saei, Omayma, Kamboh, Abdul-Rauf, Waleed Aamer (14056969), Padmajeya, Sujitha, Ammira Al-Shabeeb Akil (14152569), Aamer, Waleed, Omayma Al-Saei (18288931), Abdul-Rauf Kamboh (18288937), Najwa Elbashir (18288934), Elbashir, Najwa, Sujitha Padmajeya (14152554), Khalid Fakhro (3441305), Kohailan, Muhammad, Al-Shabeeb Akil, Ammira, Fakhro, Khalid, Muhammad Kohailan (748774)   +15 more
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The Continuity of Mandibular Form in Mandibulofacial Dysostosis

, 1982
It is reported in studies of patients with Mandibulofacial Dysostosis (Treacher Collins Syndrome, MFD) that the lower border of the mandible exhibits a consistent form.
R.G. Behrents
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Mandibulofacial dysostosis : a case report [PDF]

, 1973
A case of the mandibulofacial dysostosia at the age of 5 months is reported. All the main features described in the syndrome are present in this case. Though the Mandibulo-Facial Dysostosis is a relatively rare congenital abnormality this case deserved ...
Griscti-Soler, A., Damato, Francis Joseph   +1 more
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A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

, 2022
Objective: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM).
Istifiani, Lola Ayu, Shodry, Syifaus, Ayudianti, Prida, Soraya, Gita Vita, Herawangsa, Sarah, Tse, William Ka Fai, Pamungkas, Syafrizal Aji, Ulhaq, Zulvikar Syambani, Arisanti, Ditya, Kusuma, Muhammad A’raaf Sirojan, Idaiani, Sri, Nurputra, Dian Kesumapramudya, Dini, Badariyatud, Astari, Lina Fitria, Hasan, Yuliono Trika Nur   +14 more
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