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101

Dual transduction signaling by a Xenopus muscarinic receptor: Adenylyl cyclase inhibition and MAP kinase activation

Luisa Herrera, María Victoria Hinrichs, Jorge Frías, Silvio Gutkind, Juan Olate

Journal:

Journal of Cellular Biochemistry

Year:

1997

Language:

english

File:

PDF, 118 KB

english, 1997

102

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

103

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

104

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

105

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

106

Development of high-efficiency active patch antennas

Vicente González Posadas, José María Rodríguez Martín, Carlos Rueda Frias, José Luis Jiménez Martín, Carlos Martín Pascual

Journal:

Microwave and Optical Technology Letters

Year:

2000

Language:

english

File:

PDF, 240 KB

english, 2000

107

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

108

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

109

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

Maria A. Mori, Juan L. Gomar, Aranzazu Diaz de Bustamante, Abraham Ananias, Ismael Pinel, Maria L. Martinez-Frias, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 305 KB

english, 1987

110

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

111

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

112

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

113

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

114

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

115

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

116

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

117

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

118

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

119

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

120

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

121

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

122

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

Dr. Miguel Urioste, José I. Rodríguez, José M. Barcia, Martín Martín, Rosa Escribá, Marina Pardo, J. Camino, MaríA Luisá Martínez- Frías

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 1.18 MB

english, 1993

123

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

124

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

125

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

126

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

127

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

128

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

129

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

130

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

131

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

132

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

133

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

134

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

135

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

136

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

137

Unusual congenital abdominal wall defect and review

Ignacio Arroyo Carrera, Vicente Pitarch, María Jesús García, Ana Raquel Barrio, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 76 KB

english, 2003

138

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

Laura Rodríguez, Nieves Martínez Guardia, Christian Herens, Mauricette Jamar, Alain Verloes, Fermina López, José Santos Mun̄oz, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 190 KB

english, 2003

139

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

Enrique Galán-Gómez, José M. Carbonell-Pérez, Juan J. Cardesa-García, José M. Val-Sánchez de León, Francisco M. Campo-Sampedro, María Luisa Martínez-Frías, Jaime L. Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 98 KB

english, 2004

140

Frequency of neural tube defects and down syndrome in the same sibship: Analysis of the Spanish ongoing case-control study

María Luisa Martínez-Frías, Laura Rodríguez, Fermina López-Grondona, Eva Bermejo, Elvira Rodríguez-Pinilla, Jaime L. Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 36 KB

english, 2004

141

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

Hester Y. Kroes, Richard S. Olney, Aldo Rosano, Yecai Liu, Eduardo E. Castilla, Guido Cocchi, Catherine De Vigan, María L. Martínez-Frías, Pierpaolo Mastroiacovo, Paul Merlob, Osvaldo Mutchinick, Annu

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 85 KB

english, 2004

142

The real earliest historical evidence of Down syndrome

Maria Luisa Martinez-Frias

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 51 KB

english, 2005

143

MTHFR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women

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

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 34 KB

english, 2005

144

New findings in craniofacial dyssynostosis

Eva Bermejo, Pablo Lapunzina, Enrique Galán, Valentín Félix, Virginia Soler, María-Luisa Martínez-Frias

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 32 KB

english, 2005

145

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

Jacobo Mendioroz, Joaquín Fernández-Toral, Etelvina Suárez, Fermina López-Grondona, Klaus W. Kjaer, Eva Bermejo, María Luisa Martínez-Frías

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 108 KB

english, 2005

146

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 176 KB

english, 2005

147

Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): A second family

María Luisa Martínez-Frías, Joaquín Fernández Toral, Fermina López-Grondona, Jacobo Mendioroz, Eva Bermejo

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 177 KB

english, 2005

148

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

Robert Pogue, Nadia Ehtesham, Gabriela M. Repetto, Roque Carrero-Valenzuela, Cristina Bazán de Casella, Silvia Pintos de Pons, Maria Luisa Martínez-Frías, Solange Heuertz, Valerie Cormier-Daire, Danie

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

149

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?

María-Luisa Martínez-Frías, Belén Pérez, Lourdes R. Desviat, Margarita Castro, Fátima Leal, Laura Rodríguez, Elena Mansilla, María-Luisa Martínez-Fernández, Eva Bermejo, Elvira Rodríguez-Pinilla, Davi

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 153 KB

english, 2006

150

Gastroschisis and associated defects: An international study

Pierpaolo Mastroiacovo, Alessandra Lisi, Eduardo E. Castilla, María-Luisa Martínez-Frías, Eva Bermejo, Lisa Marengo, Jim Kucik, Csaba Siffel, Jane Halliday, Miriam Gatt, Göran Annerèn, Fabrizio Bianch

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 224 KB

english, 2007