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

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.358-373

2011

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

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.100-107

2023

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

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.274-287

2011

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

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2034-2041

2015

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Gastroschisis and associated defects: An international study

American journal of medical genetics. Part A, 2007-04, Vol.143A (7), p.660-671

2007

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

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.338-345

2014

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

American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2526-2533

Martínez-Frías, María Luisa

2012

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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

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.305-320

2011

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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

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.288-304

2011

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Topiramate in pregnancy: preliminary experience from the UK Epilepsy and Pregnancy Register

Neurology, 2009-06, Vol.72 (23), p.2054-2055

Martínez-Frías, María-Luisa

2009

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

Nature genetics, 2006-08, Vol.38 (8), p.910-916

2006

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

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.639-647

2014

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Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1243-1251

2015

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

Birth defects research. A Clinical and molecular teratology, 2004-04, Vol.70 (4), p.194-200

2004

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

American journal of medical genetics. Part A, 2010-01, Vol.152A (1), p.245-255

2010

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

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1595-1596

Martínez-Frías, María Luisa

2009

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

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2904-2909

2007

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

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.262-273

2011

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Patient with disorganization syndrome: Surgical procedures, Pathology, and potential causes

Birth defects research. A Clinical and molecular teratology, 2013-12, Vol.97 (12), p.781-785

2013

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

Frontiers in genetics, 2021-07, Vol.12, p.645595-645595

2021

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Preferential Associations between Oral Clefts and Other Major Congenital Anomalies

The Cleft palate-craniofacial journal, 2008-09, Vol.45 (5), p.525-532

2008

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

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.640-649

Martínez-Frías, María Luisa

2009

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

American journal of medical genetics. Part A, 2008-07, Vol.146A (14), p.1781-1787

Martínez-Frías, María Luisa

2008

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

American journal of medical genetics. Part A, 2008-01, Vol.146A (1), p.15-25

2008

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

Cell reports (Cambridge), 2017-05, Vol.19 (8), p.1586-1601

2017

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

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

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

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

Gastroschisis and associated defects: An international study

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

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

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

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

Topiramate in pregnancy: preliminary experience from the UK Epilepsy and Pregnancy Register

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

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

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome

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

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

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

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

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

Patient with disorganization syndrome: Surgical procedures, Pathology, and potential causes

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

Preferential Associations between Oral Clefts and Other Major Congenital Anomalies

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

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

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

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

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