Dr. M. L. Martinez-Frias: search on Z-Library

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1

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

2

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

3

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

4

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

5

Caudal deficiency and asplenia anomalies in sibs

Ana Fullana, Dr. Enrique Garcia-Frias, M. Luisa Martinez-Frias, Socorro Razquin, José Quero, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 466 KB

english, 1986

6

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

M. Urioste, E. Valcarcel, M. A. Gomez, I. Pinel, R. Garcia de León, A. Diaz de Bustamante, R. Tebar, Dr. M. L. Martinez-Frias

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 236 KB

english, 1988

7

Prevalence of dominant mutations in Spain: Effect of changes in maternal age distribution

Dr. Maria L. Martínez-Frías, Inmaculada Herranz, Joaquin Salvador, Luis Prieto, Maria A. Ramos-Arroyo, Elvira Rodríguez-Pinilla, José F. Cordero, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 477 KB

english, 1988

8

Association of holoprosencephaly and Down syndrome

Dr. M. L. Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 108 KB

english, 1989

9

Bartsocas-Papas syndrome: Three familial cases from Spain

Dr. M. L. Martínez-Frías, J. L. Frías, I. Vazquez, J. Fernández

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 395 KB

english, 1991

10

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

11

Value of clinical analysis in epidemiological research: The Spanish registry experience

Dr, M. L. Martínez-Frías, J. L. Frías, E. Rodríguez-Pinilla, M. Urioste, E. Bermejo, A. Cereijo, F. Gaya

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 418 KB

english, 1991

12

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

13

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

14

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

15

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

16

Reply to Drs. Czeizel et al

Dr. M. Michael Cohen Jr., S. Kreiborg, E. J. Lammer, J. F. Cordero, P. Mastroiacovo, J. D. Erickson, P. Roeper, M. L. Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 65 KB

english, 1993

17

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

18

Developmental field defects and associations: Epidemiological evidence of their relationship

Dr. M. L. Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 631 KB

english, 1994

19

Segmentation anomalies of the vertebras and ribs: A developmental field defect: Epidemiologic evidence

Dr. M. L. Martínez-Frías, M. Urioste

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 753 KB

english, 1994

20

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

Dr. Miguel Urioste, Guillermo Visedo, Amparo Sanchís, Carlos Sentís, Amelia Villa, Paloma Ludeña, José L. Hortigüela, María Lusia Martínez-Frías, José Fernández-Piqueras

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 656 KB

english, 1994

21

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

22

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

23

Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia

Dr. M. L. Martínez-Frías, E. Bermejo, T. Sánchez Otero, M. Urioste, V. Morena, E. Cruz

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 300 KB

english, 1994

24

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

25

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

26

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

27

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

28

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

29

Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: A new autosomal dominant disorder

Dr. M. L. Martínez-Frías, M. Martín, M. Pardo, F. Fernandez de Las Heras, J. L. Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 465 KB

english, 1995

30

Primary midline developmental field. I. Clinical and epidemiological characteristics

Dr. María-Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 758 KB

english, 1995

31

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

Dr. María-Luisa Martínez-Frías, Miguel Urioste, Eva Bermejo, Elvira Rodríguez-Pinilla, Valentín Félix, Luis Paisán, Salvador Martínez, Javier Egüés, Francisco Gómez, Paulino Aparicio, Fermín Cucalón,

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 689 KB

english, 1995

32

Congenital healed cleft lip

Dr. Eduardo E. Castilla, María Luísa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 626 KB

english, 1995

33

Postmarketing Analysis of Medicines

Dr María Luisa Martínez-Frías

Journal:

Year:

2007

Language:

english

File:

PDF, 121 KB

english, 2007

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