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1

Ring chromosome 7 and sacral agenesis

Laura Rodríguez, Amparo Sanchís, Amelia Villa, Andrés Cánovas, Sergio Peris, María Estívalis, Sara Pons, María-Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 315 KB

english, 2000

2

Periconceptional Exposure to Contraceptive Pills and Risk for Down Syndrome

Martínez-Frías, María-Luisa, Bermejo, Eva, Rodríguez-Pinilla, Elvira, Prieto, Luis

Journal:

Journal of Perinatology

Year:

2001

Language:

english

File:

PDF, 83 KB

english, 2001

3

Are blastogenetic anomalies sporadic?

Martínez-Frías, María Luisa, Frías, Jaime L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 91 KB

english, 1997

4

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

Martínez-Frías, María-Luisa, Frías, Jaime L., Bermejo, Eva, Rodríguez-Pinilla, Elvira, Urioste, Miguel

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 160 KB

english, 1997

5

Isolated small intestinal atresias in Latin America and Spain: Epidemiological analysis

María Luisa Martínez-Frías, Eduardo E. Castilla, Eva Bermejo, Luis Prieto, Iêda M. Orioli

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 85 KB

english, 2000

6

Birth prevalence study of the apert syndrome

Dr. M. Michael Cohen Jr., Sven Kreiborg, Edward J. Lammer, José F. Cordero, Pierpaolo Mastroiacovo, J. David Erickson, Peter Roeper, Maria Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 502 KB

english, 1992

7

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

Dr. María Luisa Martínez-Frías, Juan-Luis Gomar

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 296 KB

english, 1994

8

Ectrodactyly in trisomy 13 syndrome

Dr. Miguel Urioste, María Luisa Martínez-Frías, Paulino Aparicio

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 309 KB

english, 1994

9

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

María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 562 KB

english, 2008

10

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

Maria Luisa Martínez-Frías, Eva Bermejo, Elvira Rodríguez-Pinilla, Jaime Luis Frías

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2004

Language:

english

File:

PDF, 90 KB

english, 2004

11

Parental fertility and infant hypospadias: An international case-control study

Dr. Bengt Källén, Eduardo E. Castilla, Mette Kringelbach, Paul A. L. Lancaster, Maria Luisa Martínez-Frías, Pierpaolo Mastroiacovo, Osvaldo Mutchinick, Elisabeth Robert

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1991

Language:

english

File:

PDF, 483 KB

english, 1991

12

Talidomida: 50 años después

Maria Luisa Martínez-Frías

Journal:

Medicina Clínica

Year:

2012

File:

PDF, 383 KB

2012

13

Adecuación de las dosis de ácido fólico en la prevención de defectos congénitos

María Luisa Martínez-Frías

Journal:

Medicina Clínica

Year:

2007

File:

PDF, 113 KB

2007

14

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

Prieto, Luis, Martínez-Frías, María-Luisa

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 620 KB

english, 1996

15

Clinical/epidemiological analysis of congenital anomalies associated with diaphragmatic hernia

Martínez-Frías, María-Luisa, Prieto, Luis, Urioste, Miguel, Bermejo, Eva

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 518 KB

english, 1996

16

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

Martínez-Frías, María-Luisa

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 269 KB

english, 1996

17

Epidemiological analysis of rare polydactylies

Castilla, Eduardo E., da Fonseca, Regina Lugarinho, da Graça Dutra, Maria, Bermejo, Eva, Cuevas, Lourdes, Martínez-Frías, Maria-Luísa

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 726 KB

english, 1996

18

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

Martínez-Frías, María-Luisa, Urioste, Miguel, Bermejo, Eva, Sanchís, Amparo, Rodríguez-Pinilla, Elvira

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 456 KB

english, 1996

19

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

Lorda-Sánchez, Isabel, Urioste, Miguel, Villa, Amelia, Carrascosa, María del Carmen, Vásquez, Maria Socorro, Martínez, Andrés, Martínez-Frías, María Luisa

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 169 KB

english, 1997

20

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

Lorda-Sánchez, Isabel, Villa, Amelia, Urioste, Miguel, Bernal, Esther, Jaso, Enrique, García, Angel, Martínez-Frías, María Luisa

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 151 KB

english, 1997

21

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

Feingold, Murray, Hall, Bryan D., Lacassie, Yves, Martínez-Frías, María-Luísa

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 563 KB

english, 1997

22

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

Martínez-Frías, María Luisa, Frías, Jaime L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 139 KB

english, 1997

23

Prenatal exposure to sex hormones: A case-control study

Martínez-Frías, María-Luisa, Rodríguez-Pinilla, Elvira, Bermejo, Eva, Prieto, Luis

Journal:

Year:

1998

Language:

english

File:

PDF, 42 KB

english, 1998

24

Limb deficiencies in infants with trisomy 13

María Luisa Martínez-Frías, Amelia Villa, Rosa Asero De Pablo, Adrian Ayala, Maria José Calvo, Eva Bermejo, Laura Rodríguez

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 65 KB

english, 2000

25

Case-control studies using only malformed infants who were prenatally exposed to drugs. What do the results mean?

Luis Prieto, María Luisa Martínez-Frías

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2000

Language:

english

File:

PDF, 42 KB

english, 2000

26

Response to ‘what kind of controls to use in case control studies of malformed infants: Recall bias versus “Teratogen nonspecificity” bias’

Luis Prieto, María Luisa Martínez-Frias

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2000

Language:

english

File:

PDF, 19 KB

english, 2000

27

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

María-Luisa Martínez-Frías, Elvira Rodríguez-Pinilla

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2001

Language:

english

File:

PDF, 58 KB

english, 2001

28

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

Laura Rodríguez, Irene Cuadrado Pérez, Juana Herrera Montes, Maria Luisa Lorente Jareño, Fermina López Grondona, Maria Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 187 KB

english, 2002

29

Pure partial trisomy 7q: Two new patients and review

Laura Rodríguez, Fermina López, Luis Paisán, Maria del Mar Portugués de la Red, Angeles Maria Ruiz, Manuel Blanco, Jesús Antelo Cortizas, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 213 KB

english, 2002

30

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

Maria Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 571 KB

english, 1990

31

Anorectal anomalies and Down Syndrome

Dr. Miguel Urioste, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 106 KB

english, 1991

32

Tracheoesophageal and anal atresia in prenatal children exposed to a high dose of alcohol

María-Luisa Martínez-Frías, Elvira Rodríguez-Pinilla

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 109 KB

english, 1991

33

Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs

Miguel Urioste, Antonio Arroyo, María-Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 228 KB

english, 1991

34

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

Dr. María Luisa Martínez-Frías, Eva Bermejo, Ana Cereijo

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 334 KB

english, 1992

35

Reply to Drs. Karasik and Marion

María-Luisa Martínez-Frías, Elvira Rodríguez-Pinilla

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 77 KB

english, 1992

36

Pseudotrisomy 13 syndrome

María Luisa Martínez-Frías, Miguel Urioste, Martin Martin, Jaime L. Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 246 KB

english, 1992

37

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

Dr. Ignacio Arroyo, María Jesús García, Carmen Eloína Cimadevilla, Valentín Carretero, Eva Bermejo, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 157 KB

english, 1992

38

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

María-Luisa Martínez-Frías, Jaime L. Frías, Enrique Galán, Rosario Domingo, Luis Paisán, Manuel Blanco

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 358 KB

english, 1992

39

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

Dr. María Luisa Martínez-Frías, Fermín Cucalón, Miguel Urioste

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 295 KB

english, 1992

40

Anorectal and esophageal anomalies in down syndrome

Dr. María-Luisa Martínez-Frías, Miguel Urioste, Ana Cereijo, Elvira Rodríguez-Pinilla

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 130 KB

english, 1992

41

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?

Dr. MaríA-Luisa Martínez-Frías, Eva Bermejo, Miguel Urioste, Javier Egüés, José A. LÓPez Soler

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 600 KB

english, 1993

42

Short rib-polydactyly syndrome and pericentric inversion of chromosome 4

Dr. Miguel Urioste, María Luisa Martínez-Frías, Eva Bermejo, Nicolás Jiménez, Dolores Romero, Carmen Nieto, Amelia Villa

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 418 KB

english, 1994

43

Gastroschisis: Is the prevalance increasing?

Dr. María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 83 KB

english, 1994

44

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

Dr. María-Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 60 KB

english, 1994

45

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

Dr. María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 556 KB

english, 1994

46

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

Dr. María-Luisa Martínez-Frías, Eva Bermejo, Luis Paisàn, Martín Martín, Javier Egüés, José-Antonio López, Salvador Martínez, Carlos Orbea, Fermín Cucalón, Josep-María Gairi, Miguel Urioste, María-Ang

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 920 KB

english, 1994

47

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

Dr. María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 369 KB

english, 1994

48

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

Miguel Urioste, Luis Paisán, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 484 KB

english, 1994

49

Holoprosencephaly associated with caudal dysgenesis: A clinical-epidemiological analysis

Dr. María Luisa Martínez-Frías, Eva Bermejo, Angel García, Enrique Galín, Luis Prieto

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 616 KB

english, 1994

50

De novo interstitial deletion q16.2q21 on chromosome 6

Amelia Villa, Miguel Urioste, Josep M. Bofarull, María-Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 437 KB

english, 1995