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María Luisa Martínez-Frías

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Publications

TOP 3
Martínez-Frías María Luisa
Conjoined twins presenting with different sex: description of a second case that truly represents the earliest historical evidence in humans.
Martínez-Frías María-Luisa
Topiramate in pregnancy: preliminary experience from the UK Epilepsy and Pregnancy Register.
Rodríguez L; Martínez-Fernández M L; Aceña M I; López Mendoza S; Martín Fumero L; Rodríguez de Alba M; Gallego-Merlo J; Martínez-Frías M L
Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient.

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All Publications

2009: Martínez-Frías María Luisa
Conjoined twins presenting with different sex: description of a second case that truly represents the earliest historical evidence in humans.
American journal of medical genetics. Part A 2009;149A(7):1595-6.
2009: Martínez-Frías María-Luisa
Topiramate in pregnancy: preliminary experience from the UK Epilepsy and Pregnancy Register.
Neurology 2009;72(23):2054-5; author reply 2055.
2009: Rodríguez L; Martínez-Fernández M L; Aceña M I; López Mendoza S; Martín Fumero L; Rodríguez de Alba M; Gallego-Merlo J; Martínez-Frías M L
Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient.
American journal of medical genetics. Part A 2009;149A(5):1058-61.
2009: Martínez-Frías María Luisa; Bermejo Eva; Mendioroz Jacobo; Rodríguez-Pinilla Elvira; Blanco Manuel; Egüés Javier; Félix Valentín; García Angel; Huertas Héctor; Nieto Carmen; López José Antonio; López Santiago; Paisán Luis; Rosa Alejandro; Vázquez María Socorro
Epidemiological and clinical analysis of a consecutive series of conjoined twins in Spain.
Journal of pediatric surgery 2009;44(4):811-20.
2009: Martínez-Frías María Luisa;
Epidemiology of acephalus/acardius monozygotic twins: new insights into an epigenetic causal hypothesis.
American journal of medical genetics. Part A 2009;149A(4):640-9.
2008: Rodríguez L; Diego-Alvarez D; Lorda-Sanchez I; Gallardo F L; Martínez-Fernández M L; Arroyo-Muñoz M E; Martínez-Frías M L
A small and active ring X chromosome in a female with features of Kabuki syndrome.
American journal of medical genetics. Part A 2008;146A(21):2816-21.
2008: Rittler Monica; López-Camelo Jorge S; Castilla Eduardo E; Bermejo Eva; Cocchi Guido; Correa Adolfo; Csaky-Szunyogh Melinda; Danderfer Ron; De Vigan Catherine; De Walle Hermien; da Graça Dutra Maria; Hirahara Fumiki; Martínez-Frías María Luisa; Merlob Paul; Mutchinick Osvaldo; Ritvanen Annukka; Robert-Gnansia Elisabeth; Scarano Gioacchino; Siffel Csaba; Stoll Claude; Mastroiacovo Pierpaolo
Preferential associations between oral clefts and other major congenital anomalies.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2008;45(5):525-32.
2008: Martínez-Frías María Luisa
Genetic drift. The balance of nature: reflections on the physics and mathematics structure of the living world and the human genome.
American journal of medical genetics. Part A 2008;146A(14):1781-7.
2008: Martínez-Frías María Luisa; Bermejo Eva; Pérez Belén; Desviat Lourdes R; Castro Margarita; Leal Fátima; Mansilla Elena; Martínez-Fernández María Luisa; Rodríguez-Pinilla Elvira; Rodríguez Laura; Ugarte Magdalena;
[Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population]
Medicina clínica 2008;131(3):81-8.
2008: Martínez-Frías M L
The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome.
American journal of medical genetics. Part A 2008;146A(11):1477-82.
2008: Martínez-Frías María Luisa; Rodríguez-Pinilla Elvira
Problem of using cases with genetic anomalies as a reference group in case-control studies on drug use and birth defects.
Birth defects research. Part A, Clinical and molecular teratology 2008;82(3):173-4; author reply 175.
2008: Rodríguez Laura; Martínez-Fernández María Luisa; Mansilla Elena; Mendioroz Jacobo; Arteaga Rosa María; Toral Joaquín Fernández; Guardia Nieves Martínez; García Angel; Centeno Fernando; Pantoja Jorge; Jovani Carmen; Martínez-Frías María Luisa
Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects.
Clinical dysmorphology 2008;17(1):5-12.
2008: Martínez-Frías María Luisa; Bermejo Eva; Rodríguez-Pinilla Elvira; Prieto David;
Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants.
American journal of medical genetics. Part A 2008;146A(1):15-25.
2008: Martínez-Frías María Luisa;
Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?
American journal of medical genetics. Part A 2008;146A(1):26-34.
2008: Rodríguez-Pinilla Elvira; Mejías Consuelo; Prieto-Merino David; Fernández Paloma; Martínez-Frías María L;
Risk of hypospadias in newborn infants exposed to valproic acid during the first trimester of pregnancy: a case-control study in Spain.
Drug safety : an international journal of medical toxicology and drug experience 2008;31(6):537-43.
2008: Rodríguez Laura; Liehr Tomas; Martínez-Fernández María Luisa; Lara Ana; Torres Antonio; Martínez-Frías María Luisa
A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man.
Molecular Cytogenetics 2008;1(1):4.
2007: Frías Jaime L; Frías Juan P; Frías Patricio A; Martínez-Frías María Luisa
Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus.
American journal of medical genetics. Part A 2007;143A(24):2904-9.
2007: Rodríguez L; Liehr T; Mrasek K; Mansilla E; Martínez-Fernández M L; Garcia A; Martínez-Frías M L
Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review.
American journal of medical genetics. Part A 2007;143A(22):2727-32.
2007: Rouhani Panta; Fleming Lora E; Frías Jaime; Martínez-Frías María Luisa; Bermejo Eva; Mendioroz Jacobo
Pilot study of socioeconomic class, nutrition and birth defects in Spain.
Maternal and child health journal 2007;11(4):403-5.
2007: Rodríguez L; Zollino M; Mansilla E; Martínez-Fernández M L; Pérez P; Murdolo M; Martínez-Frías M L
The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.
American journal of medical genetics. Part A 2007;143A(9):995-8.
2007: Martínez-Frías María Luisa;
[Folic acid dose in the prevention of congenital defects]
Medicina clínica 2007;128(16):609-16.
2007: Mejías Consuelo; Rodríguez-Pinilla Elvira; Fernández Martín Paloma; Martínez-Frías María Luisa
[Adverse effects of selective serotonin reuptake inhibitors use during the third trimester of pregnancy and prevention guidelines]
Medicina clínica 2007;128(15):584-9.
2007: Mastroiacovo Pierpaolo; Lisi Alessandra; Castilla Eduardo E; Martínez-Frías María-Luisa; Bermejo Eva; Marengo Lisa; Kucik Jim; Siffel Csaba; Halliday Jane; Gatt Miriam; Annerèn Göran; Bianchi Fabrizio; Canessa M Aurora; Danderfer Ron; de Walle Hermien; Harris John; Li Zhu; Lowry R Brian; McDonell Robert; Merlob Paul; Metneki Julia; Mutchinick Osvaldo; Robert-Gnansia Elisabeth; Scarano Gioacchino; Sipek Antonin; Pötzsch Simone; Szabova Elena; Yevtushok Lyubov
Gastroschisis and associated defects: an international study.
American journal of medical genetics. Part A 2007;143(7):660-71.
2007: Chabchoub Elyes; Rodríguez Laura; Galán Enrique; Mansilla Elena; Martínez-Fernandez Maria Luisa; Martínez-Frías Maria Luisa; Fryns Jean-Pierre; Vermeesch Joris Robert
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Journal of medical genetics 2007;44(4):250-6.
2007: Martínez-Frías María Luisa; Cormier-Daire Valerie; Cohn Daniel H; Mendioroz Jacobo; Bermejo Eva; Mansilla Elena
[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]
Medicina clínica 2007;128(4):137-40.
2007: Martínez-Frías María Luisa
Postmarketing analysis of medicines: methodology and value of the spanish case-control study and surveillance system in preventing birth defects.
Drug safety : an international journal of medical toxicology and drug experience 2007;30(4):307-16.
2006: Martínez-Frías M L; Bermejo-Sánchez E; Rodríguez-Pinilla E; Prieto-Merino D;
[Characteristics of neonates with and without a single umbilical artery. Analysis of two consecutive series of neonates with and without congenital defects.]
Anales de pediatría (Barcelona, Spain : 2003) 2006;65(6):541-50.
2006: Rodríguez-Pinilla Elvira; Prieto-Merino David; Dequino Griselda; Mejías Consuelo; Fernández Paloma; Martínez-Frías María-Luisa;
[Antenatal exposure to corticosteroids for fetal lung maturation and its repercussion on weight, length and head circumference in the newborn infant]
Medicina clínica 2006;127(10):361-7.
2006: Martínez-Frías María Luisa
Folic acid: a public-health challenge.
Lancet 2006;367(9528):2057.
2006: Zurriaga Lloréns Oscar; Martínez García Carmen; Arizo Luque Vanessa; Sánchez Pérez Maria José; Ramos Aceitero Julián Mauro; García Blasco Maria José; Ferrari Arroyo Maria José; Perestelo Peréz Lilisbeth; Ramalle Gómara Enrique; Martínez Frías Maria Luisa; Posada de la Paz Manuel;
[Disease registries in the epidemiological researching of rare diseases in Spain]
Revista española de salud pública 2006;80(3):249-57.
2006: 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;
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?
American journal of medical genetics. Part A 2006;140(9):987-97.
2006: Bermejo Eva; Mendioroz Jacobo; Cuevas Lourdes; Martínez-Frías María-Luisa
The incidence of gastroschisis: is also increasing in Spain, particularly among babies of young mothers.
BMJ (Clinical research ed.) 2006;332(7538):424.
2005: Martínez-Frías María Luisa
[Men infertility and microdelections of Y chromosome]
Medicina clínica 2005;125(19):736-9.
2005: Rodríguez Laura; Starke Heike; Guardia Nieves Martínez; Tönnies Holger; Neitzel Heidemarie; Kozlowski Peter; Mazauric M-L; Heller Anita; Grondona Fermina López; Mansilla Elena; Santos Muñoz M José; Liehr Thomas; Martínez-Frías Maria Luisa
Three new cases with a supernumerary ring chromosome 1.
Clinical dysmorphology 2005;14(4):169-75.
2005: Pogue Robert; Ehtesham Nadia; Repetto Gabriela M; Carrero-Valenzuela Roque; de Casella Cristina Bazán; de Pons Silvia Pintos; Martínez-Frías Maria Luisa; Heuertz Solange; Cormier-Daire Valerie; Cohn Daniel H
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.
American journal of medical genetics. Part A 2005;138(1):75-8.
2005: Martínez-Frías María Luisa; Toral Joaquín Fernández; López-Grondona Fermina; Mendioroz Jacobo; Bermejo Eva
Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family.
American journal of medical genetics. Part A 2005;137A(3):288-91.
2005: Rodríguez Laura; Zollino Marcella; Climent Salvador; Mansilla Elena; López-Grondona Fermina; Martínez-Fernández María Luisa; Murdolo Marina; Martínez-Frías María Luisa
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.
American journal of medical genetics. Part A 2005;136(2):175-8.
2005: Martínez-Frías M L; Frías J P; Bermejo E; Rodríguez-Pinilla E; Prieto L; Frías J L
Pre-gestational maternal body mass index predicts an increased risk of congenital malformations in infants of mothers with gestational diabetes.
Diabetic medicine : a journal of the British Diabetic Association 2005;22(6):775-81.
2005: Mendioroz Jacobo; Fernández-Toral Joaquín; Suárez Etelvina; López-Grondona Fermina; Kjaer Klaus W; Bermejo Eva; Martínez-Frías María Luisa
Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.
American journal of medical genetics. Part A 2005;135(2):211-3.
2005: Martínez-Frías María Luisa; Bermejo Eva; Rodríguez-Pinilla Elvira; Prieto David; Prieto Luis
MTHFR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women.
American journal of medical genetics. Part A 2005;134(4):461; author reply 462.
2005: Martínez-Frías María Luisa; Bermejo Eva; Rodríguez-Pinilla Elvira; Dequino Griselda;
[Secular evolution and evolution according to autonomous communities of the frequency of fertility treatments, multiple deliveries and cesarean sections in Spain]
Medicina clínica 2005;124(4):132-9.
2005: Martínez-Frías María Luisa; Rodríguez-Pinilla Elvira; Bermejo Eva;
[Tobacco smoking during pregnancy in Spain: an analysis according to years, autonomous communities and maternal characteristics]
Medicina clínica 2005;124(3):86-92.
2005: Bermejo Eva; Félix Valentín; Lapunzina Pablo; Galán Enrique; Soler Virginia; Delicado Alicia; Pantoja Angel; Márquez María-Dolores; García Marta; Mora Emiliano; Cuevas Lourdes; Ureta Alicia; López-Pajares Isidora; Martínez-Frías María-Luisa
Craniofacial dyssynostosis: description of the first four Spanish cases and review.
American journal of medical genetics. Part A 2005;132A(1):41-8.
2004: Kroes Hester Y; Olney Richard S; Rosano Aldo; Liu Yecai; Castilla Eduardo E; Cocchi Guido; De Vigan Catherine; Martínez-Frías María L; Mastroiacovo Pierpaolo; Merlob Paul; Mutchinick Osvaldo; Ritvanen Annukka; Stoll Claude; van Essen Anthonie J; Cobben Jan Maarten; Cornel Martina C
Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?
American journal of medical genetics. Part A 2004;129A(2):149-55.
2004: Martínez-Frías María Luisa; Rodríguez Laura; López-Grondona Fermina; Bermejo Eva; Rodríguez-Pinilla Elvira; Frías Jaime L
Frequency of neural tube defects and Down syndrome in the same sibship: analysis of the Spanish ongoing case-control study.
American journal of medical genetics. Part A 2004;126A(4):430-1.
2004: Martínez-Frías Maria Luisa; Bermejo Eva; Rodríguez-Pinilla Elvira; Frías Jaime Luis
Risk for congenital anomalies associated with different sporadic and daily doses of alcohol consumption during pregnancy: a case-control study.
Birth defects research. Part A, Clinical and molecular teratology 2004;70(4):194-200.
2004: Martínez-Frías María Luisa; Bermejo Eva; Rodríguez-Pinilla Elvira; Scala Iris; Andria Generoso; Botto Lorenzo;
[Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants]
Medicina clínica 2004;122(10):361-4.
2004: Galán-Gómez Enrique; Carbonell-Pérez José M; Cardesa-García Juan J; Val-Sánchez de León José M; Campo-Sampedro Francisco M; Martínez-Frías María Luisa; Frías Jaime L
A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?
American journal of medical genetics. Part A 2004;125A(3):306-9.
2004: Martínez-Frías María Luisa; Prieto David; Prieto Luis; Bermejo Eva; Rodríguez-Pinilla Elvira; Cuevas Lourdes
Secular decreasing trend of the frequency of hypospadias among newborn male infants in Spain.
Birth defects research. Part A, Clinical and molecular teratology 2004;70(2):75-81.
2004: Carbonell Pérez J M; Galán Gómez E; Sáenz Hurtado J; Rodríguez Martínez L; Cardesa García J J; Martínez Frías M L
[De novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). Report of a new case]
Anales de pediatría (Barcelona, Spain : 2003) 2004;60(1):80-4.
2003: Rodríguez Laura; Martínez Guardia Nieves; Herens Christian; Jamar Mauricette; Verloes Alain; López Fermina; Santos Muñoz José; Martínez-Frías María Luisa
Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.
American journal of medical genetics. Part A 2003;122A(2):119-24.
2003: Arroyo Carrera Ignacio; Pitarch Vicente; García María Jesús; Barrio Ana Raquel; Martínez-Frías María Luisa
Unusual congenital abdominal wall defect and review.
American journal of medical genetics. Part A 2003;119A(2):211-3.
2003: Martínez-Frías María Luisa; Bermejo Eva; Rodríguez-Pinilla Elvira
[Analysis of temporal evolution in alcohol consumption during pregnancy in the Spanish autonomic communities]
Medicina clínica 2003;120(14):535-41.
2002: Rodríguez Laura; López Fermina; Paisán Luis; de la Red Maria del Mar Portugués; Ruiz Angeles Maria; Blanco Manuel; Antelo Cortizas Jesús; Martínez-Frías María Luisa
Pure partial trisomy 7q: two new patients and review.
American journal of medical genetics 2002;113(2):218-24.
2002: Martínez-Frías M L; Rodríguez-Pinilla E; Bermejo E; Prieto L
Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome.
American journal of medical genetics 2002;112(4):335-7.
2002: Rodríguez Laura; Cuadrado Pérez Irene; Herrera Montes Juana; Lorente Jareño Maria Luisa; López Grondona Fermina; Martínez-Frías Maria Luisa
Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele.
American journal of medical genetics 2002;110(1):73-7.
2002: Martínez-Frías María Luisa; Rodríguez-Pinilla Elvira; Mejías Consuelo; Dequino Griselda
[Primary prevention of neural tube defects: folic acid or levofoline acid?]
Medicina clínica 2002;118(9):358-9; author reply 359.
2002: González De Dios J; Martínez Frías M L; Arroyo Carrera I; Fondevilla Saucí J; Sanchís Calvo A; Hernández Ramón F; Martínez Guardia N; García González M M
[Role of signs of fetal hypokinesia in the diagnosis of spinal muscular atrophy of neonatal onset]
Anales españoles de pediatría 2002;56(3):233-40.
2001: Rodríguez Martínez L; Jiménez Muñoz-Delgado N; Nieto C; Martínez Carrascal A; López Grondona F; Martínez Frías M L
[Inverted duplication of the short arm of chromosome 8]
Anales españoles de pediatría 2001;55(5):458-62.
2001: Martínez-Frías M L; Bermejo E; Rodríguez-Pinilla E; Prieto L
Periconceptional exposure to contraceptive pills and risk for Down syndrome.
Journal of perinatology : official journal of the California Perinatal Association 2001;21(5):288-92.
2001: Martínez-Frías M L; Bermejo E; Rodríguez-Pinilla E; Frías J L
Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect.
American journal of medical genetics 2001;99(4):261-9.
2001: Martínez-Frías M L
Heterotaxia as an outcome of maternal diabetes: an epidemiological study.
American journal of medical genetics 2001;99(2):142-6.
2001: Martínez-Frías M L; García Mazario M J; Caldas C F; Conejero Gallego M P; Bermejo E; Rodríguez-Pinilla E
High maternal fever during gestation and severe congenital limb disruptions.
American journal of medical genetics 2001;98(2):201-3.
2001: Martínez-Frías M L; Rodríguez-Pinilla E
Epidemiologic analysis of prenatal exposure to cough medicines containing dextromethorphan: no evidence of human teratogenicity.
Teratology 2001;63(1):38-41.
2000: Martínez-Frías M L; Bermejo E; Rodríguez-Pinilla E
Anal atresia, vertebral, genital, and urinary tract anomalies: a primary polytopic developmental field defect identified through an epidemiological analysis of associations.
American journal of medical genetics 2000;95(2):169-73.
2000: Rodríguez L; Sanchís A; Villa A; Cánovas A; Peris S; Estívalis M; Pons S; Martínez-Frías M L
Ring chromosome 7 and sacral agenesis.
American journal of medical genetics 2000;94(1):52-8.
2000: Martínez-Frías M L; Castilla E E; Bermejo E; Prieto L; Orioli I M
Isolated small intestinal atresias in Latin America and Spain: epidemiological analysis.
American journal of medical genetics 2000;93(5):355-9.
2000: Martínez-Frías M L; Villa A; de Pablo R A; Ayala A; Calvo M J; Bermejo E; Rodríguez L
Limb deficiencies in infants with trisomy 13.
American journal of medical genetics 2000;93(4):339-41.
2000: Rosano A; Botto L D; Olney R S; Khoury M J; Ritvanen A; Goujard J; Stoll C; Cocchi G; Merlob P; Mutchinick O; Cornel M C; Castilla E E; Martínez-Frías M L; Zampino G; Erickson J D; Mastroiacovo P
Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems.
American journal of medical genetics 2000;93(2):110-6.
2000: Martínez-Frías M L; Bermejo E; Rodríguez-Pinilla E
Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: comparative epidemiology.
American journal of medical genetics 2000;92(1):13-8.
2000: Blatter B M; Roeleveld N; Bermejo E; Martínez-Frías M L; Siffel C; Czeizel A E
Spina bifida and parental occupation: results from three malformation monitoring programs in Europe.
European journal of epidemiology 2000;16(4):343-51.
2000: Rodríguez-Pinilla E; Arroyo I; Fondevilla J; García M J; Martínez-Frías M L
Prenatal exposure to valproic acid during pregnancy and limb deficiencies: a case-control study.
American journal of medical genetics 2000;90(5):376-81.
2000: Villa A; Gomez E G; Rodríguez L; Rastrollo R H; Martínez Tallo M E; Martínez-Frías M L
Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3).
American journal of medical genetics 2000;90(5):369-75.
2000: Martínez-Frías M L; Bermejo E; Frías J L
Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects.
American journal of medical genetics 2000;90(3):246-9.
1999: Arroyo Carrera I; Martínez-Frías M L; Marco Pérez J J; Paisán Grisolía L; Cárdenes Rodríguez A; Nieto Conde C; Félix Rodríguez V; Egüés Jimeno J J; Morales Fernández M C; Gómez-Ullate Vergara J; Pardo Romero M; Peñas Valiente A; Oliván del Cacho M J; Lara Palma A
[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain]
Anales españoles de pediatría 1999;51(6):667-72.
1999: González de Dios J; Martínez Frías M L; Egües Jimeno J; Gairi Tahull J M; Gómez Sabrido F; Morales Fernández M C; Paisán Grisolía L; Pardo Romero M; Medina Rams M
[Epidemiological study of Steinert's congenital myotonic dystrophy: dysmorphological characteristics]
Anales españoles de pediatría 1999;51(4):389-96.
1999: Martínez-Frías M L; Bermejo E; Rodríguez-Pinilla E; Frías J L
Maternal and fetal factors related to abnormal amniotic fluid.
Journal of perinatology : official journal of the California Perinatal Association 1999;19(7):514-20.
1999: Martínez-Frías M L; Bermejo E
[Frequency and trends of congenital defects in Spain: usefulness and significance of different frequencies]
Medicina clínica 1999;113(12):459-62.
1999: Martínez-Frías M L; Bermejo E; Frías J L
Analysis of deformations in 26,810 consecutive infants with congenital defects.
American journal of medical genetics 1999;84(4):365-8.
1999: Martínez-Frías M L; Frías J L
VACTERL as primary, polytopic developmental field defects.
American journal of medical genetics 1999;83(1):13-6.
1999: Arroyo Carrera I; Martínez-Frías M L; Egüés Jimeno J; García Martínez M J; Eloína Cimadevilla Sánchez C; Bermejo Sánchez E
[Wiedemann-Beckwith syndrome: clinical and epidemiological analysis of a consecutive series of cases in Spain]
Anales españoles de pediatría 1999;50(2):161-5.
1999: Martínez-Frías M L; Bermejo Sánchez E; Arroyo Carrera I; Pérez Fernández J L; Pardo Romero M; Burón Martínez E; Hernández Ramón F
[The Townes-Brocks syndrome in Spain: the epidemiological aspects in a consecutive series of cases]
Anales españoles de pediatría 1999;50(1):57-60.
1999: Martínez-Frías M L
[A risk analysis of congenital defects due to drug intake during pregnancy. Spanish Collaborative Study of Congenital Malformations]
Medicina clínica 1999;112(2):41-4.
1999: Martínez-Frías M L; Czeizel A E; Rodríguez-Pinilla E; Bermejo E
Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry.
Teratology 1999;59(1):35-8.
1998: Martínez-Frías M L; Bermejo Sánchez E; García García A; Pérez Fernández J L; Cucalón Manzanos F; Calvo Aguilar M J; Ripalda Crespo M J
[An epidemiological study of the thrombocytopenia with radial aplasia syndrome (TAR) in Spain]
Anales españoles de pediatría 1998;49(6):619-23.
1998: Martínez-Frías M L; Bermejo E; Blanco M; Antelo Cortizas J; Gorlin R J
[Metatrophic dysplasia: a case report, etiological considerations and prevalence]
Anales españoles de pediatría 1998;49(2):174-6.
1998: Rodríguez-Pinilla E; Martínez-Frías M L
Corticosteroids during pregnancy and oral clefts: a case-control study.
Teratology 1998;58(1):2-5.
1998: Martínez-Frías M L; Bermejo E; Rodríguez-Pinilla E; Prieto L; Frías J L
Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers.
American journal of medical genetics 1998;78(2):140-5.
1998: Martínez-Frías M L; Bermejo Sánchez E; Félix V; Calvo Celada R; Ayala Garcés A; Hernández Ramón F
[Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases]
Anales españoles de pediatría 1998;48(6):634-8.
1998: Martínez-Frías M L; Bermejo Sánchez E; Martínez Santana S; Nieto Conde C; Egüés Jimeno J; Pérez Fernández J L; Foguet Vidal A
[Jarcho-Levin and Casamassima syndromes: differential diagnosis and frequency in Spain]
Anales españoles de pediatría 1998;48(5):510-4.
1998: Martínez-Frías M L
[Analysis of the risk of congenital defects in different ethnic groups in Spain]
Anales españoles de pediatría 1998;48(4):395-400.
1998: Martínez-Frías M L; Frías J L; Opitz J M
Errors of morphogenesis and developmental field theory.
American journal of medical genetics 1998;76(4):291-6.
1998: Martínez-Frías M L; Bermejo E; Félix V; Jiménez N; Gómez-Ullate J; López J A; Aparicio P; Ayala A; Gairi J M; Galán E; Suárez M E; Peñas A; de Tapia J M; Nieto C; de la Serna E
[Brachmann-de-Lange syndrome in our population: clinical and epidemiological characteristics]
Anales españoles de pediatría 1998;48(3):293-8.
1998: Martínez-Frías M L; Bermejo Sánchez E; Rodríguez-Pinilla E; Martínez Santana S; Paisán Grisolía L; Egüés Jimeno J; Arroyo Carrera I; Blanco García M; López Soler J A; Martín Bermejo M; Gairi Tahull J M; Moral García A; Galán Gómez E; Frías J L
[Epidemiological aspects of children of women with bicornuate uterus]
Anales españoles de pediatría 1998;48(2):159-62.
1998: Bermejo E; Martínez-Frías M L
Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain.
American journal of medical genetics 1998;75(5):497-504.
1998: Martínez-Frías M L; Bermejo E; Paisán L; Blanco M; Félix V; Egüés J; Hernández F; Martín M; Martínez S; Ayala A; Aparicio P; Rodríguez-Pinilla E
[Children with limb reductions in a population of 25,193 malformed newborns: the recognized causes. ECEMC. The Spanish Collaborative Study of Congenital Malformations]
Anales españoles de pediatría 1998;48(1):49-53.
1998: Martínez-Frías M L; Sanchís A; Aparicio P; Blanco M; García M J; Gómez-Ullate J; Félix V; Huertas H; Jiménez N; López J A; Marco J J; Martín M; Palacios G; Romero D; Vázquez M S
Description of the characteristics of cases with noncontiguous neural tube defects identified in a series of consecutive births.
Teratology 1998;57(1):13-6.
1998: Martínez-Frías M L; Rodríguez-Pinilla E; Bermejo E; Prieto L
Prenatal exposure to sex hormones: a case-control study.
Teratology 1998;57(1):8-12.
1997: Martínez-Frías M L; Arroyo I; Bermejo E; Espinosa J; García M J
Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: two additional cases that expand the phenotype to a more generalized effect on blastogenesis.
American journal of medical genetics 1997;73(2):205-9.
1997: Martínez-Frías M L; Bermejo E; Aparicio P; Blanco M; Burón E; Cuevas L; Espinosa M J; Fondevilla J; Gallo M; Hernández F; Marco J J; Martínez S; Morales M C; Mújica I; Paisán L; Valdivia L
Amelia: analysis of its epidemiological and clinical characteristics.
American journal of medical genetics 1997;73(2):189-93.
1997: Martínez-Frías M L
Epidemiological characteristics of amniotic band sequence (ABS) and body wall complex (BWC): are they two different entities?
American journal of medical genetics 1997;73(2):176-9.
1997: Martínez-Frías M L
Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency.
American journal of medical genetics 1997;73(2):170-5.
1997: Martínez-Frías M L; Rodríguez-Pinilla E; Prieto L
Prenatal exposure to salicylates and gastroschisis: a case-control study.
Teratology 1997;56(4):241-3.
1997: Botto L D; Khoury M J; Mastroiacovo P; Castilla E E; Moore C A; Skjaerven R; Mutchinick O M; Borman B; Cocchi G; Czeizel A E; Goujard J; Irgens L M; Lancaster P A; Martínez-Frías M L; Merlob P; Ruusinen A; Stoll C; Sumiyoshi Y
The spectrum of congenital anomalies of the VATER association: an international study.
American journal of medical genetics 1997;71(1):8-15.
1997: Martínez-Frías M L; Bermejo Sánchez E; Rodríguez Pinilla E; Villa A
[Low birth weight as an additional indication for chromosomal analysis]
Anales españoles de pediatría 1997;46(6):593-6.
1997: Martínez-Frías M L; Frías J L; Bermejo E; Rodríguez-Pinilla E; Urioste M
Epidemiological analysis of the schisis association in the Spanish registry of congenital malformations.
American journal of medical genetics 1997;70(1):16-23.
1997: Martínez-Frías M L; Frías J L
Primary developmental field. III: Clinical and epidemiological study of blastogenetic anomalies and their relationship to different MCA patterns.
American journal of medical genetics 1997;70(1):11-5.
1997: Lorda-Sánchez I; Villa A; Urioste M; Bernal E; Jaso E; García A; Martínez-Frías M L
Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl.
American journal of medical genetics 1997;68(4):481-4.
1997: Lorda-Sánchez I; Urioste M; Villa A; Carrascosa M C; Vázquez M S; Martínez A; Martínez-Frías M L
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.
American journal of medical genetics 1997;68(4):476-80.
1997: Martínez-Frías M L; Frías J L
Are blastogenetic anomalies sporadic?
American journal of medical genetics 1997;68(4):381-5.
1996: Martínez Frías M L; Rodríguez Pinilla E; Bermejo Sánchez E; Urioste Azcorra M; Villa Milla A; Lorda Sánchez I; Frías J L
[Etiologic distribution of children with congenital defects]
Anales españoles de pediatría 1996;45(6):635-8.
1996: Martínez-Frías M L; Urioste M; Bermejo E; Sanchís A; Rodríguez-Pinilla E
Epidemiological analysis of multi-site closure failure of neural tube in humans.
American journal of medical genetics 1996;66(1):64-8.
1996: Martínez-Frías M L; Bermejo Sánchez E; Rodríguez Pinilla E
[Clinical diagnosis of Down's syndrome based on 11 signs. Epidemiological analysis of the specificity of the studied signs]
Anales españoles de pediatría 1996;45(5):522-6.
1996: Martínez-Frías M L; Félix Rodríguez V; Hernández Ramón F; Martín Bermejo M; López Soler J A; Ayala Garcés A; Bermejo Sánchez E; Rodríguez Pinilla E
[Syndromes with neural tube defects: epidemiologic analysis in Spain]
Anales españoles de pediatría 1996;45(3):276-80.
1996: Bermejo Sánchez E; Ayala Garcés A; Félix Rodríguez V; Martín Bermejo M; Blanco García M; Egüés Jimeno J; Huertas Camacho H; Jiménez Muñoz-Delgado N; Paisán Grisolía L; Martínez-Frías M L
[Anophthalmia/micro-ophthalmia in syndromes: epidemiology study of newborns in Spain]
Anales españoles de pediatría 1996;45(3):269-75.
1996: Martínez-Frías M L; Blanco García M; Urioste Azcorra M; Rodríguez Pinilla E; Villa Milla A
[The MMT syndrome (microcephaly, mesobrachyphalangy and tracheoesophageal fistula). The first case described in Spain and a review of the literature]
Anales españoles de pediatría 1996;45(1):87-9.
1996: Martínez-Frías M L; Arroyo Carrera I; Muñoz-Delgado N J; Nieto Conde C; Rodríguez-Pinilla E; Urioste Azcorra M; Omeñaca Teres F; García Alix A
[The Adams-Oliver syndrome in Spain: the epidemiological aspects]
Anales españoles de pediatría 1996;45(1):57-61.
1996: Martínez-Frías M L; Martín Bermejo M; Ayala Garcés A; Pardo Romero M; Bermejo Sánchez E; Urioste Azcorra M
[The Hay-Wells syndrome, its incidence in Spain and a review of the literature]
Anales españoles de pediatría 1996;45(1):101-4.
1996: Lorda Sánchez I; Urioste Azcorra M; Martínez Santana S; Félix Rodriguez V; Ayala Garcés A; Martínez Frías M L
[Perinatal congenital hypophosphatasia: a report of 3 cases, its prevalence in Spain and reflexions on its mode of inheritance]
Anales españoles de pediatría 1996;44(6):601-4.
1996: Martínez-Frías M L; García A; Cuevas J; Rodríguez J I; Urioste M
A new case of fibrochondrogenesis from Spain.
Journal of medical genetics 1996;33(5):429-31.
1996: Martínez-Frías M L; Prieto L; Urioste M; Bermejo E
Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia.
American journal of medical genetics 1996;62(1):71-6.
1996: Martínez-Frías M L
Epidemiological analysis of the association of congenital diaphragmatic hernia with upper-limb deficiencies: a primary polytopic developmental field defect.
American journal of medical genetics 1996;62(1):68-70.
1996: Prieto L; Martínez-Frías M L
Epidemiological analysis of the association between two congenital anomalies in the same child: a method for adjusting nonspecific clustering.
American journal of medical genetics 1996;62(1):61-7.
1996: Urioste M; Lorda-Sánchez I; Blanco M; Burón E; Aparicio P; Martínez-Frías M L
Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene?
Human genetics 1996;97(2):214-7.
1995: Villa A; Urioste M; Carrascosa M C; Vázquez S; Martínez A; Martínez-Frías M L
Pericentric inversions of chromosome 4: report of a new family and review of the literature.
Clinical genetics 1995;48(5):255-60.
1995: Galán-Gómez E; Cardesa-García J J; Campo-Sampedro F M; Salamanca-Maesso C; Martínez-Frías M L; Frías J L
Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.
American journal of medical genetics 1995;59(3):276-82.
1995: Martínez-Frías M L; Urioste M; Bermejo E; Rodríguez-Pinilla E; Félix V; Paisán L; Martínez S; Egüés J; Gómez F; Aparicio P
Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry).
American journal of medical genetics 1995;56(4):382-8.
1995: Martínez-Frías M L
Primary midline developmental field. I. Clinical and epidemiological characteristics.
American journal of medical genetics 1995;56(4):374-81.
1995: Martínez-Frías M L; Martín M; Pardo M; Fernandez de las Heras F; Frías J L
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.
American journal of medical genetics 1995;55(2):213-6.
1994: Urioste M; Martínez-Frías M L; Aparicio P
Ectrodactyly in trisomy 13 syndrome.
American journal of medical genetics 1994;53(4):390-2.
1994: Martínez-Frías M L; Martín M; Pardo M; Torres M; Cohen M M
Holoprosencephaly and hypognathia with two proboscides: report of a case and review of unusual proboscides.
Journal of craniofacial genetics and developmental biology 1994;14(4):231-4.
1994: Martínez-Frías M L; Bermejo E; García A; Galán E; Prieto L
Holoprosencephaly associated with caudal dysgenesis: a clinical-epidemiological analysis.
American journal of medical genetics 1994;53(1):46-51.
1994: Urioste M; Paisán L; Martínez-Frías M L
DK-phocomelia syndrome in a child with a long follow-up.
American journal of medical genetics 1994;52(3):269-71.
1994: Martínez-Frías M L
Spina bifida and hypospadias: a non random association or an X-linked recessive condition?
American journal of medical genetics 1994;52(1):5-8.
1994: Martínez-Frías M L; Bermejo E; Paisán L; Martín M; Egüés J; López J A; Martínez S; Orbea C; Cucalón F; Gairi J M
Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry.
American journal of medical genetics 1994;51(3):203-12.
1994: Martínez-Frías M L
Epidemiological analysis of outcomes of pregnancy in diabetic mothers: identification of the most characteristic and most frequent congenital anomalies.
American journal of medical genetics 1994;51(2):108-13.
1994: Martínez-Frías M L; Alcaraz M; Espejo P; Gómez M A; García de León R; González Moro L
Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case.
Journal of medical genetics 1994;31(5):410-2.
1994: Urioste M; Visedo G; Sanchís A; Sentís C; Villa A; Ludeña P; Hortigüela J L; Martínez-Frías M L; Fernández-Piqueras J
Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome.
American journal of medical genetics 1994;49(1):77-82.
1994: Martínez-Frías M L; Gomar J L
New case of axial mesodermal dysplasia sequence: epidemiologic evidence of a single entity.
American journal of medical genetics 1994;49(1):74-6.
1994: Martínez-Frías M L
Developmental field defects and associations: epidemiological evidence of their relationship.
American journal of medical genetics 1994;49(1):45-51.
1994: Martínez-Frías M L; Urioste M
Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence.
American journal of medical genetics 1994;49(1):36-44.
1994: Martínez-Frías M L; Bermejo E; Sánchez Otero T; Urioste M; Morena V; Cruz E
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia.
American journal of medical genetics 1994;49(2):195-7.
1994: Urioste M; Martínez-Frías M L; Bermejo E; Jiménez N; Romero D; Nieto C; Villa A
Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.
American journal of medical genetics 1994;49(1):94-7.
1993: Martínez-Frías M L; Bermejo E; Urioste M; Huertas H; Arroyo I
Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.
Journal of medical genetics 1993;30(11):937-41.
1993: Martínez-Frías M L; Bermejo E; Urioste M; Egüés J; López Soler J A
Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?
American journal of medical genetics 1993;47(5):782-7.
1993: Urioste M; Rodríguez J I; Barcia J M; Martín M; Escribá R; Pardo M; Camino J; Martínez-Frías M L
Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies.
American journal of medical genetics 1993;47(4):494-503.
1993: Martínez Santana S; Pérez Alvarez F; Frías J L; Martínez-Frías M L
Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case.
American journal of medical genetics 1993;47(1):20-3.
1993: Martínez-Frías M L; Cereijo A; Rodríguez-Pinilla E
Smoking in pregnancy.
Lancet 1993;341(8856):1350-1.
1992: Martínez-Frías M L; Cucalón F; Urioste M
New case of limb body-wall complex associated with sirenomelia sequence.
American journal of medical genetics 1992;44(5):583-5.
1992: Martínez-Frías M L; Frías J L; Galán E; Domingo R; Paisán L; Blanco M
Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.
American journal of medical genetics 1992;44(3):352-5.
1992: Martínez-Frías M L; Bermejo E
Prevalence of congenital anomaly syndromes in a Spanish gypsy population.
Journal of medical genetics 1992;29(7):483-6.
1992: Arroyo I; García M J; Cimadevilla C E; Carretero V; Bermejo E; Martínez-Frías M L
Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity?
American journal of medical genetics 1992;43(4):686-7.
1992: Martínez-Frías M L; Bermejo E; Cereijo A
Preaxial polydactyly of feet in infants of diabetic mothers: epidemiological test of a clinical hypothesis.
American journal of medical genetics 1992;42(5):643-6.
1992: Martínez-Frías M L; Cereijo A; Rodríguez-Pinilla E; Urioste M
Methimazole in animal feed and congenital aplasia cutis.
Lancet 1992;339(8795):742-3.
1991: Urioste M; Arroyo A; Martínez-Frías M L
Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs.
American journal of medical genetics 1991;41(4):475-7.
1991: Martínez-Frías M L; Frías J L; Rodríguez-Pinilla E; Urioste M; Bermejo E; Cereijo A; Gaya F
Value of clinical analysis in epidemiological research: the Spanish registry experience.
American journal of medical genetics 1991;41(2):192-5.
1991: Martínez-Frías M L; Frías J L; Vazquez I; Fernández J
Bartsocas-Papas syndrome: three familial cases from Spain.
American journal of medical genetics 1991;39(1):34-7.
1991: Martínez-Frías M L; Bermejo E; Cereijo A; Sánchez M; López M; Gonzalo C
Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes.
American journal of medical genetics 1991;38(4):626-9.
1991: Martínez-Frías M L; Cereijo A; Bermejo E; López M; Sánchez M; Gonzalo C
Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes.
American journal of medical genetics 1991;38(4):622-5.
1990: Martínez-Frías M L
Clinical manifestation of prenatal exposure to valproic acid using case reports and epidemiologic information.
American journal of medical genetics 1990;37(2):277-82.
1990: Martínez-Frías M L; Prieto Valiente L; Bermejo Sánchez E; Gaya Moreno F
[Birth weight of infants born without congenital defects. II. Effect of tobacco and parity of the mother on the wight of the newborn infant]
Anales españoles de pediatría 1990;33(1):16-20.
1990: Martínez-Frías M L; Prieto Valiente L; Bermejo Sánchez E; Gaya Moreno F
[Birth weight of children born without congenital defects. I. Birthweight percentiles by gestational age]
Anales españoles de pediatría 1990;33(1):12-5.
1990: Martínez-Frías M L; Salvador J
Epidemiological aspects of prenatal exposure to high doses of vitamin A in Spain.
European journal of epidemiology 1990;6(2):118-23.
1989: Martínez-Frías M L
[Prevention of congenital malformations. A program for an epidemiologic study in Spain (1976-1988)]
Anales españoles de pediatría 1989;31(2):97-9.
1988: Martínez-Frías M L; Herranz I; Salvador J; Prieto L; Ramos-Arroyo M A; Rodríguez-Pinilla E; Cordero J F
Prevalence of dominant mutations in Spain: effect of changes in maternal age distribution.
American journal of medical genetics 1988;31(4):845-52.
1988: Martínez-Frías M L; Ramos-Arroyo M A; Salvador J
Thanatophoric dysplasia: an autosomal dominant condition?
American journal of medical genetics 1988;31(4):815-20.
1988: Ramos-Arroyo M A; Rodríguez-Pinilla E; Marcos Herrero F; Martínez Frías M L
[Determining factors in the intrauterine development of twins: possible effect of gestational age, sex and type of twins]
Anales españoles de pediatría 1988;29(2):127-31.

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