Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

Authors: Palencia‐Campos, Adrián, Martínez‐Fernández, María‐Luisa, Altunoglu, Umut, Soto‐Bielicka, Patricia, Torres, Antonio, Marín, Purificación, Aller, Elena, Şentürk, Leyli, Berköz, Ömer, Yıldıran, Mehmet, Kayserili, Hülya, Gil‐Camarero, Elena, Colli‐Lista, Gloria, Sanchís‐Calvo, Amparo, Carretero, Alba, Guillén‐Navarro, Encarna, López‐González, Vanesa, Ballesta‐Martínez, María, Rosell, Jordi, Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Cuevas‐Catalina, Lourdes, Torres‐Saavedra, María‐Nieves, Nevado, Julian, Tenorio, Jair, Lapunzina, Pablo, Bermejo‐Sánchez, Eva, Ruiz‐Pérez, Víctor L.

Source: Human mutation. 41(1):265-276

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100096238210.0x000001&indx=1&recIds=ETOCvdc_100096238210.0x000001

Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.

Authors: Nevado, Julián, Bel-Fenellós, Cristina, Sandoval-Talamantes, Ana Karen, Hernández, Adolfo, Biencinto-López, Chantal, Martínez-Fernández, María Luisa, Barrúz, Pilar, Santos-Simarro, Fernando, Mori-Álvarez, María Ángeles, Mansilla, Elena, García-Santiago, Fé Amalia, Valcorba, Isabel, Sáenz-Rico, Belén, Martínez-Frías, María Luisa, Lapunzina, Pablo

Source: Frontiers in Genetics; 7/30/2021, Vol. 12, p1-19, 19p

Subject Terms: GENETIC disorders, SYNDROMES, PHENOTYPES

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Authors: Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo

Source: In The American Journal of Human Genetics 12 August 2011 89(2):295-301

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Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.

Authors: Martínez‐Fernández, María Luisa^1,2, Fernández‐Toral, Joaquin³, Llano‐Rivas, Isabel⁴, Bermejo‐Sánchez, Eva^1,2,5, MacDonald, Alexandra², Martínez‐Frías, María Luisa^1,2,6

Source: American Journal of Medical Genetics. Part A; Sep2015, Vol. 167A Issue 9, p2034-2041, 8p

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.

Authors: Arroyo‐Carrera, Ignacio^1,2,3, de Zaldívar Tristancho, María Solo^1,2, Bermejo‐Sánchez, Eva^2,3,4,5, Martínez‐Fernández, María Luisa^2,3,4, López‐Lafuente, Amparo⁶, MacDonald, Alexandra^2,4, Zúñiga, Ángel⁷, Luis Gómez‐Skarmeta, José⁸, Luisa Martínez‐Frías, María^2,3,4,9

Source: American Journal of Medical Genetics. Part A; Jun2015, Vol. 167A Issue 6, p1243-1251, 9p

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Haploinsufficiency of BMP 4 gene may be the underlying cause of Frías syndrome.

Authors: Martínez‐Fernández, María Luisa^1,2, Bermejo‐Sánchez, Eva^1,2,3, Fernández, Belén⁴, MacDonald, Alexandra², Fernández‐Toral, Joaquín⁵, Martínez‐Frías, María Luisa^1,2,6

Source: American Journal of Medical Genetics. Part A; Feb2014, Vol. 164A Issue 2, p338-345, 8p

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome.

Authors: Carrascosa ‐ Romero, María CarmEN¹, mccarrascosa@sescam.jccm.es, Suela, Javier², Pardal ‐ Fernández, José Manuel³, Bermejo ‐ Sánchez, Eva^4,5,6, Vidal ‐ Company, Alberto⁷, MacDonald, Alexandra⁵, Tébar ‐ Gil, Roque⁸, Martínez ‐ Fernández, María Luisa^5,6, Martínez ‐ Frías, María Luisa^5,6,9, mlmartinez.frias@isciii.es

Source: American Journal of Medical Genetics. Part A; Sep2013, Vol. 161A Issue 9, p2281-2290, 10p

Maternal polymorphisms 677C‐T and 1298A‐C of MTHFR, and 66A‐G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?How to cite this article: Martínez‐Frías M‐L, Pérez B, Desviat LR, Castro M, Leal F, Rodríguez L, Mansilla E, Martínez‐Fernández M‐L, Bermejo E, Rodríguez‐Pinilla E, Prieto D, Ugarte M, ECEMC Working Group. 2006. Maternal polymorphisms 677C‐T and 1298A‐C of MTHFR, and 66A‐G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?. Am J Med Genet Part A 140A:987–997.

Authors: Martínez‐Frías, María‐Luisa, Pérez, Belén, Desviat, Lourdes R., Castro, Margarita, Leal, Fátima, Rodríguez, Laura, Mansilla, Elena, Martínez‐Fernández, María‐Luisa, Bermejo, Eva, Rodríguez‐Pinilla, Elvira, Prieto, David, Ugarte, Magdalena

Source: American Journal of Medical Genetics. Part A; May 2006, Vol. 140 Issue: 9 p987-997, 11p

The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second case

Authors: Rodríguez, Laura, Zollino, Marcella, Climent, Salvador, Mansilla, Elena, López‐Grondona, Fermina, Martínez‐Fernández, María Luisa, Murdolo, Marina, Martínez‐Frías, María Luisa

Source: American Journal of Medical Genetics. Part A; July 2005, Vol. 136 Issue: 2 p175-178, 4p