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The cardiofaciocutaneous syndrome

Journal of Medical Genetics, 2006-11, Vol.43 (11), p.833-842

2006

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A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.611-617

2017

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Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome

American journal of medical genetics. Part A, 2013-11, Vol.161A (11), p.2697-2703

2013

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PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

European journal of human genetics : EJHG, 2003-01, Vol.11 (1), p.64-68

2003

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Genetics of tethered cord "syndrome" The FG syndrome

American journal of medical genetics, 2005-02, Vol.132A (4), p.454-455

Opitz, J.M.

2005

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Resynthesizing Evolutionary and Developmental Biology

Developmental Biology, 1996-02, Vol.173 (2), p.357-372

1996

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Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain

American journal of human genetics, 1998-09, Vol.63 (3), p.703-710

1998

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Transitory hypogammaglobulinemia of infancy in FG syndrome

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.396-398

2005

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Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

Nature genetics, 1995-12, Vol.11 (4), p.459-461

1995

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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Nature genetics, 1997-11, Vol.17 (3), p.285

1997

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Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients

American journal of medical genetics, 2003-06, Vol.119A (2), p.177-179

2003

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Selected midline defect associations: a population study

Pediatrics (Evanston), 1989-08, Vol.84 (2), p.266

1989

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"DOUBLE-MUSCLE" TRAIT IN CATTLE: A POSSIBLE MODEL FOR WIEDEMANN-BECKWITH SYNDROME

Fetal and pediatric pathology, 2006-01, Vol.25 (1), p.9-20

2006

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Goethe's bone and the beginnings of morphology

American journal of medical genetics, 2004-04, Vol.126A (1), p.1-8

Opitz, John M.

2004

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Conjoined twins: Morphogenesis of the heart and a review

American journal of medical genetics, 2003-08, Vol.120A (4), p.568-582

2003

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Associations and syndromes: Terminology in clinical genetics and birth defects epidemiology: Comments on Khoury, Moore, and Evans

American journal of medical genetics, 1994-01, Vol.49 (1), p.14-20

Opitz, John M.

1994

Volltextzugriff (PDF)

Wolf-Hirschhorn syndrome (WHS): a history in pictures

Clinical dysmorphology, 2000-01, Vol.9 (1), p.25-30

2000

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Splenogonadal fusion‐limb defect “syndrome” and associated malformations

American journal of medical genetics, 2003-08, Vol.120A (4), p.518-522

2003

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Errors of morphogenesis: concepts and terms. Recommendations of an international working group

The Journal of pediatrics, 1982-01, Vol.100 (1), p.160-165

1982

Volltextzugriff (PDF)

Vision and insight in the search for gene mutations causing nonsyndromal mental deficiency

Neurology, 2000-08, Vol.55 (3), p.328

Opitz, J M

2000

Volltextzugriff (PDF)

338 THE FG SYNDROME: FROM 1974-2004

Journal of investigative medicine, 2005-01, Vol.53 (1), p.S137-S137

2005

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Life of Alexander G. Gurwitsch and his relevant contribution to the theory of morphogenetic fields

The International journal of developmental biology, 1997-12, Vol.41 (6), p.771

1997

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Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia

American journal of medical genetics, 2003-08, Vol.120A (4), p.503-508

2003

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Fetus‐in‐fetu form of monozygotic twinning with retroperitoneal teratoma

American journal of medical genetics, 2003-07, Vol.120A (3), p.406-412

2003

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Microcephaly: general considerations and aids to nosology

Journal of craniofacial genetics and developmental biology, 1990, Vol.10 (2), p.175

1990

Volltextzugriff (PDF)

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The cardiofaciocutaneous syndrome

A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus

Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

Genetics of tethered cord "syndrome" The FG syndrome

Resynthesizing Evolutionary and Developmental Biology

Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain

Transitory hypogammaglobulinemia of infancy in FG syndrome

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients

Selected midline defect associations: a population study

"DOUBLE-MUSCLE" TRAIT IN CATTLE: A POSSIBLE MODEL FOR WIEDEMANN-BECKWITH SYNDROME

Goethe's bone and the beginnings of morphology

Conjoined twins: Morphogenesis of the heart and a review

Associations and syndromes: Terminology in clinical genetics and birth defects epidemiology: Comments on Khoury, Moore, and Evans

Wolf-Hirschhorn syndrome (WHS): a history in pictures

Splenogonadal fusion‐limb defect “syndrome” and associated malformations

Errors of morphogenesis: concepts and terms. Recommendations of an international working group

Vision and insight in the search for gene mutations causing nonsyndromal mental deficiency

338 THE FG SYNDROME: FROM 1974-2004

Life of Alexander G. Gurwitsch and his relevant contribution to the theory of morphogenetic fields

Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia

Fetus‐in‐fetu form of monozygotic twinning with retroperitoneal teratoma

Microcephaly: general considerations and aids to nosology

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