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1

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

Maria Valencia, Pablo Lapunzina, Derek Lim, Raffaella Zannolli, Deborah Bartholdi, Bernd Wollnik, Othman Al-Ajlouni, Suhair S. Eid, Helen Cox, Sabrina Buoni, Joseph Hayek, Maria L. Martinez-Frias, Per

Journal:

Year:

2009

Language:

english

File:

PDF, 375 KB

english, 2009

2

Alagille Syndrome: Cutaneous Manifestations in 38 Children

Maria Amelia Garcia, Ramonet Margarita, Ciocca Mirta, Cabrera Hugo, Lapunzina Pablo, Alvarez Estela, Maria Teresa De Davila

Journal:

Pediatric Dermatology

Year:

2005

Language:

english

File:

PDF, 149 KB

english, 2005

3

Simpson-Golabi-Behmel syndrome types I and II

Tenorio, Jair, Arias, Pedro, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Nevado, Julián, Lapunzina, Pablo

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

File:

PDF, 501 KB

2014

4

TP53andCDKN1Amutation analysis in families with Li–Fraumeni and Li–Fraumeni like syndromes

Andrade, Raissa Coelho, dos Santos, Anna Claudia Evangelista, de Aguirre Neto, Joaquim Caetano, Nevado, Julián, Lapunzina, Pablo, Vargas, Fernando Regla

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 397 KB

english, 2017

5

Ultraviolet light-related neural tube defects?

Lapunzina, Pablo

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 97 KB

1996

6

Diastrophic dysplasia diagnosed in a case published 100 years ago

Lapunzina, Pablo, Arberas, Claudia, Fernandez, Mar�a del Carmen, Tello, Ana Mar�a

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 192 KB

english, 1998

7

Reply to correspondence from Martínez-Frías et al.—“Nowadays it is preceptive to perform chromosomal studies with high resolution G-bands and FISH techniques when necessary”

Pablo Lapunzina, Gabriel Musante, Ana Pedraza, Luis Prudent, Enrique Gadow

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 23 KB

english, 2002

8

Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex

Dr. José Ignacio Rodríguez, José Palacios, Pablo Lapunzina

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 597 KB

english, 1993

9

Mulibrey nanism: Three additional patients and a review of 39 patients

Dr. Pablo Lapunzina, José Ignacio Rodríguez, Elena de Matteo, Ricardo Gracia, Felipe Moreno

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 795 KB

english, 1995

10

Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: A severe expression of the Genoa syndrome or a newly recognized syndrome?

Pablo Lapunzina, Gabriel Musante, Ana Pedraza, Luis Prudent, Enrique Gadow

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 124 KB

english, 2001

11

A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings

María A. Mori, Pablo Lapunzina, Alicia Delicado, Guillermo Núñez, José I. Rodríguez, María L. de Torres, Francisco Herrero, Eva Valverde, Isidora López-Pajares

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 193 KB

english, 2004

12

Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review

Pablo Lapunzina, Alba Gairí, Alicia Delicado, M. Angeles Mori, M. Luisa de Torres, Anton Goma, Marcelo Navia, Isidora López Pajares

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 320 KB

english, 2004

13

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

Eva Bermejo, Valentín Félix, Pablo Lapunzina, Enrique Galán, Virginia Soler, Alicia Delicado, Angel Pantoja, María-Dolores Márquez, Marta García, Emiliano Mora, Lourdes Cuevas, Alicia Ureta, Isidora L

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 233 KB

english, 2005

14

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

15

Other tumors in Sotos syndrome

Pablo Lapunzina

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 24 KB

english, 2005

16

Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome

Luis Fernández, Pablo Lapunzina, Isidora López Pajares, Germán Rodríguez Criado, Luis García-Guereta, Jesús Pérez, José Quero, Alicia Delicado

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 105 KB

english, 2005

17

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome

Germán Rodríguez-Criado, Luis Magano, Mabel Segovia, Fiorella Gurrieri, Giovanni Neri, Antonio González-Meneses, Ignacio Gómez de Terreros, Rita Valdéz, Ricardo Gracia, Pablo Lapunzina

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 211 KB

english, 2005

18

HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

Karen W. Gripp, Angela E. Lin, Deborah L. Stabley, Linda Nicholson, Charles I. Scott Jr., Daniel Doyle, Yoko Aoki, Yoichi Matsubara, Elaine H. Zackai, Pablo Lapunzina, Antonio Gonzalez-Meneses, Jennif

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 104 KB

english, 2006

19

Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: Clinical, pathological, and molecular findings

Adrián Mariño-Enríquez, Pablo Lapunzina, Stephen P. Robertson, José I. Rodríguez

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 331 KB

english, 2007

20

Sotos syndrome is associated with leukemia/lymphoma

Víctor Martínez-Glez, Pablo Lapunzina

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 61 KB

english, 2007

21

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Luis Fernández, Pablo Lapunzina, Isidora López Pajares, María Palomares, Isabel Martínez, Blanca Fernández, José Quero, Luis García-Guereta, Alfredo García-Alix, Margarita Burgueros, Enrique Galán-Góm

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 137 KB

english, 2008

22

Laurin–Sandrow syndrome: Review and redefinition

Adrián Mariño-Enríquez, Pablo Lapunzina, Félix Omeñaca, Carmen Morales, José I. Rodríguez

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 250 KB

english, 2008

23

Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): Report of six cases of a new syndrome/association

Juan Carlos López-Gutiérrez, Pablo Lapunzina

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 129 KB

english, 2008

24

Unusual four-generation chromosome-22 rearrangement: When “normality” masks abnormality

Julián Nevado, M. Luisa de Torres, Luis Fernández, M. Ángeles Mori, Amelia Villa, María Palomares, Fe García-Santiago, Elena Mansilla, Sixto García-Miñaur, Alicia Delicado, Pablo Lapunzina

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 179 KB

english, 2009

25

Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Víctor Martínez-Glez, Valeria Romanelli, María A. Mori, Ricardo Gracia, Mabel Segovia, Antonio González-Meneses, Juan C. López-Gutierrez, Esther Gean, Loreto Martorell, Pablo Lapunzina

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 147 KB

english, 2010

26

Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person

Matthew R. Fickie, Pablo Lapunzina, Jennifer K. Gentile, Nina Tolkoff-Rubin, Daniela Kroshinsky, Enrique Galan, Esther Gean, Loreto Martorell, Valeria Romanelli, Joaquín Fernandez Toral, Angela E. Lin

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 510 KB

english, 2011

27

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Pablo Lapunzina

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2005

Language:

english

File:

PDF, 229 KB

english, 2005

28

A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail

Pablo Lapunzina, Alejandra Fernández, Juan M. Sánchez Romero, Alicia Delicado, Miguel Sáenz de Pipaon, Isidora López Pajares, Jesús Molano

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2005

Language:

english

File:

PDF, 232 KB

english, 2005

29

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis–van Creveld syndrome with borderline intelligence

Samia A. Temtamy, Mona S. Aglan, Maria Valencia, Guido Cocchi, Maria Pacheco, Adel M. Ashour, Khalda S. Amr, Sanaa M.H. Helmy, Mona A. El-Gammal, Michael Wright, Pablo Lapunzina, Judith A. Goodship, V

Journal:

Year:

2008

Language:

english

File:

PDF, 385 KB

english, 2008

30

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Víctor Martínez-Glez, Maria Valencia, José A. Caparrós-Martín, Mona Aglan, Samia Temtamy, Jair Tenorio, Veronica Pulido, Uschi Lindert, Marianne Rohrbach, David Eyre, Cecilia Giunta, Pablo Lapunzina,

Journal:

Year:

2012

Language:

english

File:

PDF, 383 KB

english, 2012

31

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands

Sara Benito-Sanz, Darya Gorbenko Del Blanco, Miriam Aza-Carmona, Luis F. Magano, Pablo Lapunzina, Jesús Argente, Ángel Campos-Barros, Karen E. Heath

Journal:

Year:

2006

Language:

english

File:

PDF, 93 KB

english, 2006

32

Multiple Giant Pilomatricoma in Familial Sotos Syndrome

YOLANDA GILABERTE, MARTA FERRER-LOZANO, MARÍA JESÚS OLIVÁN, CARMEN COSCOJUELA, MANUEL ABASCAL, PABLO LAPUNZINA

Journal:

Pediatric Dermatology

Year:

2008

Language:

english

File:

PDF, 325 KB

english, 2008

33

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Pablo Lapunzina, Mona Aglan, Samia Temtamy, José A. Caparrós-Martín, Maria Valencia, Rocío Letón, Victor Martínez-Glez, Rasha Elhossini, Khalda Amr, Nuria Vilaboa, Victor L. Ruiz-Perez

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 370 KB

english, 2010

34

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

Pablo Lapunzina, David Monk

Journal:

Biology of the Cell

Year:

2011

Language:

english

File:

PDF, 575 KB

english, 2011

35

Rothmund-Thomson Syndrome and Addison Disease

Pablo Lapunzina, Eduardo Fonseca, Ricardo Gracia, Alicia Delicado

Journal:

Pediatric Dermatology

Year:

1995

Language:

english

File:

PDF, 263 KB

english, 1995

36

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes

Luis Fernández, Julián Nevado, María L. De Torres, Elena Mansilla, Elena Vallespín, Sixto García-Miñaúr, Rebeca Palomo, Lucía Deirós, Marta Cabrera, Elia Dina Galo, Pablo Lapunzina, Alicia Delicado

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 637 KB

english, 2012

37

Beckwith–Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a “de novo” pericentric inversion of chromosome Y

Alicia Delicado, Pablo Lapunzina, María Palomares, Maria Antonia Molina, Enrique Galán, Isidora López Pajares

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 177 KB

english, 2005

38

Direct tandem duplication in chromosome 19q characterized by array CGH

Maria Palomares Bralo, Alicia Delicado, Pablo Lapunzina, Ramón Velázquez Fragua, Olaya Villa, Maria Ángeles Mori, Maria Luisa de Torres, Luis Fernández, Luis A. Pérez Jurado, Isidora López Pajares

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 281 KB

english, 2008

39

Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases

Belén Pérez, Julián Nevado, Pablo Lapunzina, Lorena Gallego, Celia Pérez-Cerdá, Begoña Merinero, Magdalena Ugarte, Lourdes R. Desviat

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 322 KB

english, 2012

40

Neurosyphilis in an eight-year-old child: Usefulness of the SPECT study

Pablo D. Lapunzina, Jaime M. Altcheh, Juan C. Flichman, Hector Freilij

Journal:

Pediatric Neurology

Year:

1998

Language:

english

File:

PDF, 519 KB

english, 1998

41

Risks of congenital anomalies in large for gestational age infants

Pablo Lapunzina, Jorge S.López Camelo, Monica Rittler, Eduardo E. Castilla

Journal:

The Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 72 KB

english, 2002

42

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Victor L. Ruiz-Perez, W.J. Stuart Tompson, J. Helen Blair, Cecilia Espinoza-Valdez, Pablo Lapunzina, Elias O. Silva, Ben Hamel, John L. Gibbs, Ian D. Young, Michael J. Wright, Judith A. Goodship

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 848 KB

english, 2003

43

Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

Ningwu Huang, Amit V. Pandey, Vishal Agrawal, William Reardon, Pablo D. Lapunzina, David Mowat, Ethylin Wang Jabs, Guy Van Vliet, Joseph Sack, Christa E. Flück, Walter L. Miller

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 2.42 MB

english, 2005

44

Sharing honours when referencing

Pablo Lapunzina, Virginia Soler Vigil

Journal:

Year:

1996

Language:

english

File:

PDF, 17 KB

english, 1996

45

A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

Kantaputra, Piranit Nik, Sittiwangkul, Rekwan, Sonsuwan, Nuntigar, Romanelli, Valeria, Tenorio, Jair, Lapunzina, Pablo

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 369 KB

english, 2013

46

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability

Rodríguez-Revenga, Laia, Vallespín, Elena, Madrigal, Irene, Palomares, María, Mur, Antonio, García-Miñaur, Sixto, Santos, Fernando, Mori, M. Ángeles, Lapunzina, Pablo, Mila, Montserrat, Nevado, Julián

Journal:

Year:

2013

Language:

english

File:

PDF, 239 KB

english, 2013

47

Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes

Court, Franck, Martin-Trujillo, Alex, Romanelli, Valeria, Garin, Intza, Iglesias-Platas, Isabel, Salafsky, Ira, Guitart, Miriam, Perez de Nanclares, Guiomar, Lapunzina, Pablo, Monk, David

Journal:

Year:

2013

Language:

english

File:

PDF, 419 KB

english, 2013

48

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Caparrós-Martin, José A., Valencia, María, Pulido, Veronica, Martínez-Glez, Victor, Rueda-Arenas, Inmaculada, Amr, Khalda, Farra, Chantal, Lapunzina, Pablo, Ruiz-Perez, Victor L., Temtamy, Samia, Agla

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.69 MB

english, 2013

49

Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica

Carcavilla, Atilano, Santomé, José L., Pinto, Isabel, Sánchez-Pozo, Jaime, Guillén-Navarro, Encarna, Martín-Frías, María, Lapunzina, Pablo, Ezquieta, Begoña

Journal:

Revista Española de Cardiología

Year:

2013

File:

PDF, 213 KB

2013

50

LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

Carcavilla, Atilano, Santomé, José L., Pinto, Isabel, Sánchez-Pozo, Jaime, Guillén-Navarro, Encarna, Martín-Frías, María, Lapunzina, Pablo, Ezquieta, Begoña

Journal:

Revista Española de Cardiología (English Edition)

Year:

2013

Language:

english

File:

PDF, 202 KB

english, 2013

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