M. Martínez‐Frías

发表

Bartsocas-Papas syndrome: three familial cases from Spain.

J. Frías, M. Martínez‐Frías, I. Vázquez, 1991, American journal of medical genetics.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

C. Ponting, D. Bonthron, E. Bertini, 2006, Nature Genetics.

Anal atresia, vertebral, genital, and urinary tract anomalies: a primary polytopic developmental field defect identified through an epidemiological analysis of associations.

E. Bermejo, M. Martinez-frias, E. Rodríguez-Pinilla, 2000, American journal of medical genetics.

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?

M. Urioste, E. Bermejo, M. Martínez‐Frías, 1993, American journal of medical genetics.

Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain.

E. Bermejo, E Bermejo, M L Martínez-Frías, 1998, American journal of medical genetics.

Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

S. Bianca, A. Pierini, G. Scarano, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

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

M. Zollino, E. Mansilla, M. Murdolo, 2005, American journal of medical genetics. Part A.

Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect.

E. Bermejo, M. Martinez-frias, J. Frías, 2001, American journal of medical genetics.

Gastroschisis and associated defects: An international study

Lyubov Yevtushok, Pierpaolo Mastroiacovo, Fabrizio Bianchi, 2007, American journal of medical genetics. Part A.

Anorectal anomalies and Down syndrome.

M. Urioste, M. Martínez‐Frías, 1991, American journal of medical genetics.

VACTERL as primary, polytopic developmental field defects.

M. Martinez-frias, J. Frías, M. Martínez‐Frías, 1999, American journal of medical genetics.

Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies.

M. Urioste, M. Pardo, R. Escribá, 1993, American journal of medical genetics.

Methimazole in animal feed and congenital aplasia cutis

M. Urioste, A. Cereijo, M. Martínez‐Frías, 1992, The Lancet.

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

M. Martinez-frias, M. Ros, F. Bertocchini, 2011, Disease Models & Mechanisms.

The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

B. Källén, P. Mastroiacovo, E. Castilla, 1992, Journal of medical genetics.

The real earliest historical evidence of Down syndrome

M. Martínez‐Frías, 2005, American journal of medical genetics. Part A.

TOPIRAMATE IN PREGNANCY: PRELIMINARY EXPERIENCE FROM THE UK EPILEPSY AND PREGNANCY REGISTER

M. Martinez-frias, M. Martínez‐Frías, 2009, Neurology.

Problem of using cases with genetic anomalies as a reference group in case-control studies on drug use and birth defects.

M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Segmentation anomalies of the vertebras and ribs: One expression of the primary developmental field

M. Martínez‐Frías, 2004, American journal of medical genetics. Part A.

Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry.

E. Bermejo, L. Paisán, J. A. López, 1994, American journal of medical genetics.

Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence.

M. Urioste, M. Martínez‐Frías, 1994, American journal of medical genetics.

A highly specific coding system for structural chromosomal alterations

M. Martinez-frias, M. Martínez-Fernández, M. Martínez‐Frías, 2013, American journal of medical genetics. Part A.

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: Description of a second patient and exclusion of HOXD13

E. Bermejo, K. Kjaer, J. Fernández-Toral, 2005, American journal of medical genetics. Part A.

Pre‐gestational maternal body mass index predicts an increased risk of congenital malformations in infants of mothers with gestational diabetes

E. Bermejo, J. Frías, L. Prieto, 2005, Diabetic medicine : a journal of the British Diabetic Association.

Risk for congenital anomalies associated with different sporadic and daily doses of alcohol consumption during pregnancy: a case-control study.

E. Bermejo, J. Frías, M. Martínez‐Frías, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Secular decreasing trend of the frequency of hypospadias among newborn male infants in Spain.

E. Bermejo, L. Prieto, L. Cuevas, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Approaches to the analysis of infants with multiple congenital anomalies.

M. Martinez-frias, M. Martínez‐Frías, 2001, American journal of medical genetics.

Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects.

E. Bermejo, M. Martinez-frias, J. Frías, 2000, American journal of medical genetics.

Analysis of deformations in 26,810 consecutive infants with congenital defects.

E. Bermejo, J. Frías, M. Martínez‐Frías, 1999, American journal of medical genetics.

Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers.

E. Bermejo, M. Martinez-frias, J. Frías, 1998, American journal of medical genetics.

Increased parental age and number of pregnancies in Klippel–Trenaunay–Weber syndrome

L. Prieto, I. Lorda‐Sánchez, M. Martínez‐Frías, 1998, Annals of human genetics.

Errors of morphogenesis and developmental field theory.

J. Opitz, J. Frías, M. Martínez‐Frías, 1998, American journal of medical genetics.

Congenital Anomalies in the Offspring of Mothers With a Bicornuate Uterus

E. Bermejo, J. Frías, M. Martínez‐Frías, 1998, Pediatrics.

Description of the characteristics of cases with noncontiguous neural tube defects identified in a series of consecutive births.

J. A. López, M. Martín, N. Jiménez, 1998, Teratology.

Epidemiological characteristics of amniotic band sequence (ABS) and body wall complex (BWC): are they two different entities?

M. Martinez-frias, M. Martínez‐Frías, 1997, American journal of medical genetics.

Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency.

M. Martínez‐Frías, 1997, American journal of medical genetics.

Epidemiological analysis of the schisis association in the Spanish registry of congenital malformations.

M. Urioste, E. Bermejo, J. Frías, 1997, American journal of medical genetics.

Primary developmental field. III: Clinical and epidemiological study of blastogenetic anomalies and their relationship to different MCA patterns.

M. Martinez-frias, J. Frías, M. Martínez‐Frías, 1997, American journal of medical genetics.

Are blastogenetic anomalies sporadic?

J. Frías, M. Martínez‐Frías, 1997, American journal of medical genetics.

Multiple vertebral segmentation defects and rib anomalies.

M. Martínez‐Frías, 1996, American journal of medical genetics.

Epidemiological analysis of multi-site closure failure of neural tube in humans.

M. Urioste, E. Bermejo, M. Martinez-frias, 1996, American journal of medical genetics.

Epidemiological analysis of rare polydactylies.

E. Bermejo, E. Castilla, M. da Graça Dutra, 1996, American journal of medical genetics.

Epidemiological analysis of the association between two congenital anomalies in the same child: a method for adjusting nonspecific clustering.

L. Prieto, M. Martínez‐Frías, Luis Prieto, 1996, American journal of medical genetics.

Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia.

M. Urioste, E. Bermejo, L. Prieto, 1996, American journal of medical genetics.

Epidemiological analysis of the association of congenital diaphragmatic hernia with upper-limb deficiencies: a primary polytopic developmental field defect.

M. Martinez-frias, M. Martínez‐Frías, 1996, American journal of medical genetics.

Congenital healed cleft lip.

M. Martinez-frias, E. Castilla, M. Martínez‐Frías, 1995, American journal of medical genetics.

Video display terminals: risk of trisomy 18?

M. Martínez‐Frías, E. Rodríguez‐Pinilla, 1995, Clinical Genetics.

Primary midline developmental field. I. Clinical and epidemiological characteristics.

M. Martínez‐Frías, 1995, American journal of medical genetics.

Primary midline developmental field. II. Clinical/epidemiological analysis of alteration of laterality (normal body symmetry and asymmetry).

M. Urioste, E. Bermejo, L. Paisán, 1995, American journal of medical genetics.

Ectrodactyly in trisomy 13 syndrome.

M. Urioste, M. Martínez‐Frías, P. Aparicio, 1994, American journal of medical genetics.

Holoprosencephaly associated with caudal dysgenesis: a clinical-epidemiological analysis.

E. Bermejo, L. Prieto, E. Galán, 1994, American journal of medical genetics.

Spina bifida and hypospadias: a non random association or an X-linked recessive condition?

M. Martínez‐Frías, 1994, American journal of medical genetics.

Epidemiological analysis of outcomes of pregnancy in diabetic mothers: identification of the most characteristic and most frequent congenital anomalies.

M. Martinez-frias, M. Martínez‐Frías, 1994, American journal of medical genetics.

New case of axial mesodermal dysplasia sequence: epidemiologic evidence of a single entity.

M. Martínez‐Frías, J. Gomar, 1994, American journal of medical genetics.

Value of clinical analysis in epidemiological research: the Spanish registry experience.

M. Urioste, E. Bermejo, M. Martinez-frias, 1991, American journal of medical genetics.

Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes.

E. Bermejo, M. López, A. Cereijo, 1991, American journal of medical genetics.

Clinical/epidemiological analysis of malformations.

J. Frías, J. Salvador, M. Martínez‐Frías, 1990, American journal of medical genetics.

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus

J. Frias, M. Martinez-frias, J. Frías, 2007, American journal of medical genetics. Part A.

Another way to interpret the description of the Monster of Ravenna of the sixteenth century.

M. Martínez‐Frías, 1994, American journal of medical genetics.

The spectrum of congenital anomalies of the VATER association: an international study.

M. Khoury, C. Stoll, C. Moore, 1997, American journal of medical genetics.

De novo interstitial deletion q16.2q21 on chromosome 6.

M. Urioste, A. Villa, J. Bofarull, 1995, American journal of medical genetics.

Three new cases with a supernumerary ring chromosome 1

T. Liehr, M. Martinez-frias, H. Tönnies, 2005, Clinical dysmorphology.

Limb deficiencies in infants with trisomy 13.

E. Bermejo, A. Villa, R. de Pablo, 2000, American journal of medical genetics.

Developmental field defects and associations: epidemiological evidence of their relationship.

M. Martínez‐Frías, 1994, American journal of medical genetics.

Unusual congenital abdominal wall defect and review

I. Carrera, A. Barrio, María Jesús García, 2003, American journal of medical genetics. Part A.

Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: comparative epidemiology.

E. Bermejo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2000, American journal of medical genetics.

Amelia: analysis of its epidemiological and clinical characteristics.

E. Bermejo, M. Espinosa, M. Gallo, 1997, American journal of medical genetics.

New case of limb body-wall complex associated with sirenomelia sequence.

M. Urioste, M. Martínez‐Frías, F. Cucalón, 1992, American journal of medical genetics.

Epidemiological study of gastroschisis and omphalocele in Spain.

L. Prieto, J. Salvador, M. Martínez‐Frías, 1984, Teratology.

Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case.

M. Alcaraz, L. González Moro, R. García de León, 1994, Journal of medical genetics.

Prevention, diagnosis and services.

E. Bermejo, M. Martinez-frias, M. Martínez‐Frías, 2010, Advances in experimental medicine and biology.

Prevalence of dominant mutations in Spain: effect of changes in maternal age distribution.

J. Cordero, M. Ramos-Arroyo, L. Prieto, 1988, American journal of medical genetics.

Heterotaxia as an outcome of maternal diabetes: an epidemiological study.

M. Martínez‐Frías, 2001, American journal of medical genetics.

Caudal deficiency and asplenia anomalies in sibs.

J. Quero, S. Razquin, M. Martínez‐Frías, 1986, American journal of medical genetics. Supplement.

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion.

M. Urioste, A. Villa, I. Lorda‐Sánchez, 1997, American journal of medical genetics.

Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele.

M. Martinez-frias, L. Rodríguez, I. Cuadrado Pérez, 2002, American journal of medical genetics.

Cyclopia and sirenomelia in a liveborn infant.

E. Bermejo, M. Martínez‐Frías, A. García, 1998, Journal of medical genetics.

Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother.

M. Urioste, A. Diaz de Bustamante, I. Pinel, 1988, American journal of medical genetics.

Does single umbilical artery (SUA) predict any type of congenital defect? Clinical–epidemiological analysis of a large consecutive series of malformed infants

E. Bermejo, María Luisa Martínez-Frías, Eva Bermejo, 2008, American journal of medical genetics. Part A.

Epidemiological and clinical analysis of a consecutive series of conjoined twins in Spain.

E. Bermejo, María Luisa Martínez-Frías, Eva Bermejo, 2009, Journal of pediatric surgery.

Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?

María Luisa Martínez-Frías, M. Martínez‐Frías, 2008, American journal of medical genetics. Part A.

[Characteristics of neonates with and without a single umbilical artery. Analysis of two consecutive series of neonates with and without congenital defects].

D. Prieto-Merino, E. Bermejo-Sánchez, M. Martínez‐Frías, 2006, Anales de pediatria.

Short rib-polydactyly syndrome and pericentric inversion of chromosome 4.

M. Urioste, E. Bermejo, M. Martinez-frias, 1994, American journal of medical genetics.

Interviewer bias and maternal bias.

M. Martinez-frias, M. Martínez‐Frías, 1993, Teratology.

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

M. Martinez-frias, M. Ros, F. Bertocchini, 2011, Disease Models & Mechanisms.

Epidemiological aspects of prenatal exposure to high doses of vitamin a in Spain

J. Salvador, M. Martínez‐Frías, 1990, European Journal of Epidemiology.

Spina bifida and parental occupation: Results from three malformation monitoring programs in Europe

E. Bermejo, A. Czeizel, N. Roeleveld, 2004, European Journal of Epidemiology.

Pure partial trisomy 7q: two new patients and review.

L. Paisán, L. Rodríguez, Á. Ruiz, 2002, American journal of medical genetics.

Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3).

A. Villa, E. G. Gómez, L. Rodríguez, 2000, American journal of medical genetics.

Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.

J. Frías, L. Paisán, E. Galán, 1992, American journal of medical genetics.

Prevalence of congenital anomaly syndromes in a Spanish gypsy population.

E. Bermejo, M. Martínez‐Frías, 1992, Journal of medical genetics.

Preaxial polydactyly of feet in infants of diabetic mothers: epidemiological test of a clinical hypothesis.

E. Bermejo, A. Cereijo, M. Martínez‐Frías, 1992, American journal of medical genetics.

Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs.

M. Urioste, M. Martínez‐Frías, A. Arroyo, 1991, American journal of medical genetics.

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia

E. Bermejo, M. Nieto, M. Nieto, 2010, American journal of medical genetics. Part A.

Thanatophoric dysplasia: an autosomal dominant condition?

M. Martinez-frias, M. Ramos-Arroyo, J. Salvador, 1988, American journal of medical genetics.

[Jarcho-Levin and Casamassima syndromes: differential diagnosis and frequency in Spain].

C. Nieto Conde, M. Martínez‐Frías, E. Bermejo Sánchez, 1998, Anales espanoles de pediatria.

Patient with disorganization syndrome: surgical procedures, pathology, and potential causes.

E. Bermejo-Sánchez, J. R. Ruiz Jiménez, M. Martínez‐Frías, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach.

J. Graham, M. Martínez‐Frías, Raymond Wang, 2002, The Journal of pediatrics.

Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development.

Pedro P. Rocha, Y. Kaneda, M. Gut, 2017, Cell reports.

Necessary for Correct Hematopoietic and B Cell Development Graphical Abstract Highlights

Pedro P. Rocha, Y. Kaneda, M. Gut, 2017 .

A small and active ring x chromosome in a female with features of Kabuki syndrome

M. Martinez-frias, D. Diego‐Alvarez, M. Martínez-Fernández, 2008, American journal of medical genetics. Part A.

Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three new cases and review

A. Verloes, M. Jamar, C. Herens, 2003, American journal of medical genetics. Part A.

Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome.

M. Urioste, J. Fernández-Piqueras, M. Martinez-frias, 1994, American journal of medical genetics.

Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

M. Urioste, E. Bermejo, M. Martinez-frias, 1993, Journal of medical genetics.

Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay.

Y. Lacassie, M. Feingold, B. Hall, 1997, American journal of medical genetics.

Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: A defect expression of a developmental control gene?

M. Urioste, I. Lorda‐Sánchez, E. Burón, 1996, Human Genetics.

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling

R. Zannolli, J. Goodship, P. Lapunzina, 2009, Human mutation.

Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects

R. Arteaga, E. Mansilla, María Luisa Martínez-Frías, 2008, Clinical dysmorphology.

Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide

S. Vollset, E. Bermejo, S. Bianca, 2003, Journal of medical genetics.

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

M. Fichera, C. Romano, R. Borgatti, 2011, PLoS genetics.

Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity?

E. Bermejo, I. Arroyo, M. Martínez‐Frías, 1992, American journal of medical genetics.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Sixto García-Miñaur, Sally Ann Lynch, Göran Annerén, 2011, American journal of human genetics.

Maternal and Fetal Factors Related to Abnormal Amniotic Fluid

E. Bermejo, M. Martinez-frias, J. Frías, 1999, Journal of Perinatology.

Isolated small intestinal atresias in Latin America and Spain: epidemiological analysis.

E. Bermejo, E. Castilla, I. Orioli, 2000, American journal of medical genetics.

Chromosome 4p16 and osteochondroplasias

M. Urioste, E. Bermejo, M. Martinez-frias, 1994, Nature Genetics.

Subtelomeric deletion of 12p: Description of a third case and review

A. Macdonald, M. Martínez-Fernández, L. Rodríguez, 2010, American journal of medical genetics. Part A.

Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research

A. Pierini, G. Scarano, M. Morgan, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

[Wiedemann-Beckwith syndrome: clinical and epidemiological analysis of a consecutive series of cases in Spain].

I. Arroyo Carrera, M. Martínez‐Frías, E. Bermejo Sánchez, 1999, Anales espanoles de pediatria.

Major congenital malformations in Down syndrome.

E. Bermejo, M. Martinez-frias, M. Martínez‐Frías, 1997, American journal of medical genetics.

Case-control study on occupational exposure to anesthetic gases during pregnancy

E. Bermejo, L. Prieto, M. Martínez‐Frías, 1998 .

Craniofacial dyssynostosis: Description of the first four Spanish cases and review

E. Bermejo, Marta García, P. Lapunzina, 2005, American journal of medical genetics. Part A.

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?

E. Bermejo, M. Ugarte, E. Mansilla, 2006, American journal of medical genetics. Part A.

Actividad de los Servicios de Información sobre Teratógenos (SITTE y SITE) durante el año 2010 / The activity of the Spanish Teratology Information Services (SITTE and SITE) during the year 2010

M. Martinez-frias, E. Bermejo-Sánchez, P. F. Martin, 2012 .

Prenatal exposure to sex hormones: a case-control study.

E. Bermejo, M. Martinez-frias, E. Rodríguez-Pinilla, 1998, Teratology.

Prenatal exposure to salicylates and gastroschisis: a case-control study.

M. Martinez-frias, E. Rodríguez-Pinilla, L. Prieto, 1997, Teratology.

Problems of using data from Teratology Information Services (TIS) to identify putative teratogens.

M. Martinez-frias, E. Rodríguez-Pinilla, M. Martínez‐Frías, 1999, Teratology.

Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review

K. Mrasek, T. Liehr, E. Mansilla, 2007, American journal of medical genetics. Part A.

Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research

G. Scarano, M. Morgan, J. Carey, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias.

Miguel Manzanares, J. Flores, M. Manzanares, 2007, Developmental cell.

[Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases].

V. Félix, M. Martínez‐Frías, E. Bermejo Sánchez, 1998, Anales espanoles de pediatria.

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

R. Borgatti, S. Gimelli, G. Gimelli, 2008, European Journal of Human Genetics.

A Joint International Study on the Epidemiology of Hypospadias

R. Bertollini, A. Czeizel, P. Mastroiacovo, 1986, Acta paediatrica Scandinavica. Supplement.

Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation.

M. Morí, A. Diaz de Bustamante, I. Pinel, 1987, American journal of medical genetics.

[An epidemiological study of the thrombocytopenia with radial aplasia syndrome (TAR) in Spain].

M. J. Ripalda Crespo, M. J. Calvo Aguilar, A. García García, 1998, Anales espanoles de pediatria.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

Birth prevalence study of the Apert syndrome.

S. Kreiborg, P. Mastroiacovo, J. Cordero, 1992, American journal of medical genetics.

Paper 6: EUROCAT member registries: organization and activities.

David Tucker, Wladimir Wertelecki, Babak Khoshnood, 2011, Birth defects research. Part A, Clinical and molecular teratology.

Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case.

J. Frías, M. Martínez‐Frías, S. Martínez Santana, 1993, American journal of medical genetics.

Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia.

M. Urioste, E. Bermejo, M. Martinez-frias, 1994, American journal of medical genetics.

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

J. Fernández-Toral, A. Macdonald, E. Bermejo-Sánchez, 2015, American journal of medical genetics. Part A.

Anorectal and esophageal anomalies in down syndrome

M. Urioste, A. Cereijo, M. Martínez‐Frías, 1992 .

High maternal fever during gestation and severe congenital limb disruptions.

E. Bermejo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2001, American journal of medical genetics.

[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].

M. J. Oliván del Cacho, I. Arroyo Carrera, C. Nieto Conde, 1999, Anales espanoles de pediatria.

Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl.

M. Urioste, A. Villa, I. Lorda‐Sánchez, 1997, American journal of medical genetics.

Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.

J. Frías, M. Martínez‐Frías, E. Galán‐Gómez, 1995, American journal of medical genetics.

Can our understanding of epigenetics assist with primary prevention of congenital defects?

M. Martinez-frias, María Luisa Martínez-Frías, M. Martínez‐Frías, 2009, Journal of Medical Genetics.

Epidemiology of acephalus/acardius monozygotic twins: New insights into an epigenetic causal hypothesis

María Luisa Martínez-Frías, M. Martínez‐Frías, 2009, American journal of medical genetics. Part A.

Anticonvulsant drugs and malformations is there a drug specificity?

B. Källén, P. Mastroiacovo, G. Cocchi, 1989, European Journal of Epidemiology.

Ring chromosome 7 and sacral agenesis.

A. Villa, S. Peris, L. Rodríguez, 2000, American journal of medical genetics.

Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”?

C. Stoll, A. Rosano, P. Mastroiacovo, 2004, American journal of medical genetics. Part A.

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

T. Liehr, Antonio Torres, M. Martínez-Fernández, 2008, Molecular Cytogenetics.

A diagnostic conundrum: Two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?

J. Frías, José María Carbonell‐Pérez, M. Martínez‐Frías, 2004, American journal of medical genetics. Part A.

Smoking during pregnancy and Poland sequence: results of a population-based registry and a case-control registry.

E. Bermejo, A. Czeizel, M. Martínez‐Frías, 1999, Teratology.

DK-phocomelia syndrome in a child with a long follow-up.

M. Urioste, L. Paisán, M. Martínez‐Frías, 1994, American journal of medical genetics.

Amelia: A multi‐center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

F. Bianchi, S. Bianca, G. Scarano, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

An unusual variant of chromosome 16

M. Urioste, V. Félix, A. Diaz de Bustamante, 1988, Human Genetics.

The incidence of gastroschisis: Is also increasing in Spain, particularly among babies of young mothers

E. Bermejo, J. Mendioroz, L. Cuevas, 2006, BMJ : British Medical Journal.

Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems.

M. Khoury, C. Stoll, G. Zampino, 2000, American journal of medical genetics.

Gastroschisis: Is the prevalance increasing?

M. Martínez‐Frías, 1994 .

[The thalidomide experience: review of its effects 50 years later].

M. Martínez‐Frías, 2012, Medicina clinica.

Evolución secular y por autonomías de la frecuencia de tratamientos de fertilidad, partos múltiples y cesáreas en España

E. Bermejo, M. Martinez-frias, E. Rodríguez-Pinilla, 2005 .

[Effect of consanguinity and endogamy on mortality and fertility in a Spanish population].

L. Prieto, A. Cereijo, M. Martínez‐Frías, 1985, Genetica iberica.

Periconceptional Exposure to Contraceptive Pills and Risk for Down Syndrome

E. Bermejo, L. Prieto, M. Martínez‐Frías, 2001, Journal of Perinatology.

Hormone therapy during pregnancy and isolated hypospadias: an international case-control study.

B. Källén, P. Mastroiacovo, E. Castilla, 1992, The International journal of risk & safety in medicine.

An international case-control study on hypospadias the problem with variability and the beauty of diversity

B. Källén, P. Mastroiacovo, M. Martinez-frias, 1992, European Journal of Epidemiology.

Parental fertility and infant hypospadias: an international case-control study.

B. Källén, P. Mastroiacovo, E. Castilla, 1991, Teratology.

Oral contraceptives in the etiology of isolated hypospadias.

B. Källén, P. Mastroiacovo, E. Castilla, 1991, Contraception.

Genetic syndromes mimic congenital infections.

Y. Crow, L. Cerveró, M. Martínez‐Frías, 2005, The Journal of pediatrics.

Prenatal exposure to valproic acid during pregnancy and limb deficiencies: a case-control study.

I. Arroyo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2000, American journal of medical genetics.

Preferential Associations between Oral Clefts and Other Major Congenital Anomalies

Guido Cocchi, Pierpaolo Mastroiacovo, Csaba Siffel, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Corticosteroids during pregnancy and oral clefts: a case-control study.

M. Martinez-frias, E. Rodríguez-Pinilla, M. Martínez‐Frías, 1998, Teratology.

Incidence of Smith‐Lemli‐Opitz syndrome in Ontario, Canada

E. Bermejo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2003, American journal of medical genetics. Part A.

Partial monosomy 15q due to de novo t(15;22)(q15;p11).

M. Morí, A. Diaz de Bustamante, I. Pinel, 1987, Annales de genetique.

Conjoined twins presenting with different sex: Description of a second case that truly represents the earliest historical evidence in humans

M. Martínez‐Frías, 2009, American Journal of Medical Genetics. Part A.

Clinical manifestation of prenatal exposure to valproic acid using case reports and epidemiologic information.

M. Martínez‐Frías, 1990, American journal of medical genetics.

Valproic acid and spina bifida

M. Martínez‐Frías, 1991, The Lancet.

Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report

T. Liehr, L. Rodríguez, A. Plasencia, 2010, Journal of medical case reports.

Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes.

E. Bermejo, M. López, A. Cereijo, 1991, American journal of medical genetics.

Folic acid: a public-health challenge

M. Martinez-frias, M. Martínez‐Frías, 2006, The Lancet.

Assessing pre‐implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures

M. Martinez-frias, M. Martínez‐Frías, 2012, American journal of medical genetics. Part A.

Análisis clínico-epidemiológico de los recién nacidos con defectos congénitos registrados en el ECEMC: Distribución por etiología y por grupos étnicos / Clinical-epidemiological analysis of the newborn infants with congenital defects registered by ECEMC: Distribution by etiology and ethnic groups.

E. Bermejo-Sánchez, L. Cuevas, M. Martínez‐Frías, 2012 .

VALPROATE AND SPINA BIFIDA

P. Oakeshott, G. Hunt, J. Salvador, 1989, The Lancet.

Epidemiological evidence that maternal diabetes does not appear to increase the risk for Down syndrome.

E. Bermejo, L. Prieto, M. Martínez‐Frías, 2002, American journal of medical genetics.

Response to Dr. Narchi's comments on “epidemiological evidence that maternal diabetes does not appear to increase the risk for down syndrome”

E. Bermejo, L. Prieto, M. Martínez‐Frías, 2003 .

De novo 10q23 interstitial deletion.

M. Martinez-frias, M. Morí, A. Diaz de Bustamante, 1988, Journal of medical genetics.

Holoprosencephaly and hypognathia with two proboscides: report of a case and review of unusual proboscides.

M. Cohen, M. Pardo, M. Martín, 1994, Journal of craniofacial genetics and developmental biology.

European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans

F. Bianchi, E. Garne, A. Latos-Bieleńska, 2014, Public Health Genomics.

Interstitial deletion 14q22.3‐q23.2: Genotype–phenotype correlation

R. Arteaga, A. Macdonald, J. Ocejo-Vinyals, 2014, American journal of medical genetics. Part A.

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome

J. Fernández-Toral, A. Macdonald, E. Bermejo-Sánchez, 2014, American journal of medical genetics. Part A.

Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis

E. Bermejo, C. A. de Frutos, A. Puras, 2011, American journal of medical genetics. Part A.

[The Adams-Oliver syndrome in Spain: the epidemiological aspects].

M. Martinez-frias, E. Rodríguez-Pinilla, F. Omeñaca Teres, 1996, Anales espanoles de pediatria.

Folic acid supplementation and neural tube defects

M. Martínez‐Frías, E. Rodríguez‐Pinilla, 1992, The Lancet.

The balance of nature: Reflections on the physics and mathematics structure of the living world and the human genome

M. Martinez-frias, M. Martínez‐Frías, 2008, American journal of medical genetics. Part A.

Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: two additional cases that expand the phenotype to a more generalized effect on blastogenesis.

E. Bermejo, I. Arroyo, M. Martínez‐Frías, 1997, American journal of medical genetics.

Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

F. Bianchi, S. Bianca, G. Scarano, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Pilot Study of Socioeconomic Class, Nutrition and Birth Defects in Spain

E. Bermejo, L. Fleming, M. Martinez-frias, 2007, Maternal and Child Health Journal.

[Tobacco smoking during pregnancy in Spain: an analysis according to years, autonomous communities and maternal characteristics].

E. Bermejo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 2005, Medicina clinica.

A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

S. Mundlos, P. Lapunzina, F. Santos-Simarro, 2022, American journal of medical genetics. Part A.

A new case of fibrochondrogenesis from Spain.

M. Urioste, J. Rodríguez, J. Cuevas, 1996, Journal of medical genetics.

A Reply

E. Bermejo, C. Hui, J. Frías, 2001, Clinical genetics.

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

J. Suela, M. Martinez-frias, A. Macdonald, 2013, American journal of medical genetics. Part A.

Postmarketing Analysis of Medicines

M. Martinez-frias, María Luisa Martínez-Frías, M. Martínez‐Frías, 2012, Drug safety.

Prenatal exposure to penicillamine and oral clefts: case report.

E. Bermejo, M. Martínez‐Frías, E. Rodríguez‐Pinilla, 1998, American journal of medical genetics.

Epidemiologic analysis of prenatal exposure to cough medicines containing dextromethorphan: no evidence of human teratogenicity.

M. Martinez-frias, E. Rodríguez-Pinilla, M. Martínez‐Frías, 2001, Teratology.

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

E. Zackai, E. Bermejo, B. Weschke, 2003, Journal of medical genetics.

Case-control studies using only malformed infants: are we interpreting the results correctly?

M. Martinez-frias, L. Prieto, M. Martínez‐Frías, 1999, Teratology.

The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history

M. Zollino, E. Mansilla, M. Murdolo, 2007, American journal of medical genetics. Part A.

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

G. Repetto, V. Cormier-Daire, D. Cohn, 2005, American journal of medical genetics. Part A.

The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome

M L Martínez-Frías, M. Martínez‐Frías, M.L. Martínez‐Frías, 2008, American journal of medical genetics. Part A.

Paper 6: EUROCAT member registries: organization and activities.

S. Vollset, E. Garne, M. Haeusler, 2011, Birth defects research. Part A, Clinical and molecular teratology.

Preferential Associations between Oral Clefts and Other Major Congenital Anomalies

E. Bermejo, G. Scarano, C. Stoll, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Pseudotrisomy 13 syndrome.

M. Martínez‐Frías, Miguel Urioste, Martin G. Martin, 1992, American journal of medical genetics.

[The Townes-Brocks syndrome in Spain: the epidemiological aspects in a consecutive series of cases].

I. Arroyo Carrera, M. Martínez‐Frías, E. Bermejo Sánchez, 1999, Anales espanoles de pediatria.

Smoking in pregnancy

A. Cereijo, M. Martínez‐Frías, Elvira Rodríguez-Pinilla, 1993, The Lancet.

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker–Warburg syndrome

M. C. Valero, M. Martinez-frias, J. Cruces, 2007, Clinical genetics.

Sirenomelia: a multisystemic malformation with wide phenotypic variability

Carlos Garrido-Allepuz, Endika Haro, M. Martínez‐Frías, 2011 .

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

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2021, Frontiers in Genetics.