List of works - John Marius Opitz

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

scientific article

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

scientific article

International nosology of heritable disorders of connective tissue, Berlin, 1986

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

scientific article

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

scientific article published on November 1997

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

scientific article

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

scientific article

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

scientific article published on May 1983

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

scientific article

The cardiofaciocutaneous syndrome

scientific article

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

scientific article

Obesity: Genetic, molecular, and environmental aspects

scientific article

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

scientific article

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

scientific article

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

scientific article published in January 1982

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

scientific article

Heterogeneity of Chondrodysplasia punctata

scientific article published on 01 January 1971

International system for human gene nomenclature (1979) ISGN (1979).

scientific article published on January 1979

I-cell disease: a clinical picture

scientific article published on 01 September 1971

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture

scientific article

THE CORNELIA DE LANGE SYNDROME.

scientific article

Errors of morphogenesis and developmental field theory

scientific article published on April 1, 1998

CNS anomalies and the midline as a "developmental field"

scientific article published on 01 August 1982

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

scientific article

Dominantly inherited renal adysplasia

article

Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature

scientific article published on March 1996

Familial bilateral renal agenesis and hereditary renal adysplasia

scientific article published on August 31, 1973

The syndromes of Sotos and Weaver: reports and review

scientific article published in October 1998

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

article

RSH (so-called Smith-Lemli-Opitz) syndrome

scientific article

A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings

scientific article published in October 1965

Del(20p) with manifestations of arteriohepatic dysplasia

article

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

scientific article

Defects of blastogenesis

scientific article

RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations

scientific article

Part I. Amyoplasia: A common, sporadic condition with congenital contractures

article

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

article

Meier-Gorlin syndrome: report of eight additional cases and review.

scientific article

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies

scientific article published on January 1, 1975

Thanatophoric dysplasia and cloverleaf skull

scientific article published on January 1987

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

scientific article published on 20 November 2013

Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

scientific article published on 01 April 1974

Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome

scientific article published on April 6, 1976

The dup(3q) syndrome: report of eight cases and review of the literature

scientific article published on January 1981

Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 → 14qter)

scientific article published on January 1, 1977

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome

scientific journal article

Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism*

scientific article published on May 1, 1975

The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies

scientific article published on September 1, 1984

The campomelic syndrome

scientific article published on 01 May 1971

A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome

scientific article published on November 1, 1983

List of works by John Marius Opitz

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

International nosology of heritable disorders of connective tissue, Berlin, 1986

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

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

The cardiofaciocutaneous syndrome

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

Obesity: Genetic, molecular, and environmental aspects

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

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

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

Heterogeneity of Chondrodysplasia punctata

International system for human gene nomenclature (1979) ISGN (1979).

I-cell disease: a clinical picture

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture

THE CORNELIA DE LANGE SYNDROME.

Errors of morphogenesis and developmental field theory

CNS anomalies and the midline as a "developmental field"

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

Dominantly inherited renal adysplasia

Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature

Familial bilateral renal agenesis and hereditary renal adysplasia

The syndromes of Sotos and Weaver: reports and review

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

RSH (so-called Smith-Lemli-Opitz) syndrome

A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings

Del(20p) with manifestations of arteriohepatic dysplasia

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Defects of blastogenesis

RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations

Part I. Amyoplasia: A common, sporadic condition with congenital contractures

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

Meier-Gorlin syndrome: report of eight additional cases and review.

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies

Thanatophoric dysplasia and cloverleaf skull

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome

The dup(3q) syndrome: report of eight cases and review of the literature

Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 → 14qter)

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome

Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism*

The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies

The campomelic syndrome

A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome