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Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the Rozin camptodactyly syndrome

American journal of medical genetics. Part A, 2006-06, Vol.140A (11), p.1245-1249

2006

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Reciprocal Modulation of Matrix Metalloproteinase-13 and Type I Collagen Genes in Rat Hepatic Stellate Cells

The American journal of pathology, 2003-06, Vol.162 (6), p.1771-1780

2003

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Osteopoikilosis: report of a familial case

Genetic counseling, 1994, Vol.5 (4), p.373

1994

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Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects A new syndrome?

Clinical genetics, 1996-01, Vol.49 (1), p.46-48

1996

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Esophagopericardial fistula attributed to a barogenic rupture of the esophagus. Report of a case and review of the literature

Hepato-gastroenterology, 2001-09, Vol.48 (41), p.1375

2001

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SED-brachydactyly and distinctive speech: report of two new cases

Genetic counseling, 2007, Vol.18 (1), p.85

2007

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Christian's spondylo-digital syndrome: second familial case

Clinical genetics, 1995-11, Vol.48 (5), p.268-271

1995

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Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads

Genetic counseling, 1996, Vol.7 (3), p.187

1996

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A probably distinct autosomal recessive thoraco-limb dysplasia

Journal of medical genetics, 1988-09, Vol.25 (9), p.619-622

1988

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Congenital bilateral temporomandibular joint ankylosis. A probable hereditary malformation

Revista de investigacion clinica, 1982-01, Vol.34 (1), p.69

1982

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A distinct dysmorphic syndrome with congenital glaucoma and probable autosomal recessive inheritance

Ophthalmic genetics, 1990, Vol.11 (1), p.35-40

1990

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Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Further delineation of a new genetic syndrome

American journal of medical genetics, 1997-03, Vol.69 (2), p.138-151

1997

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Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: A distinct autosomal-recessive disorder

American journal of medical genetics, 1998-02, Vol.75 (5), p.453-460

1998

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Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition

Clinical genetics, 1989-12, Vol.36 (6), p.456-458

1989

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Autosomal dominant congenital macroglossia: further delineation of the syndrome

Genetic counseling, 1994, Vol.5 (2), p.151

1994

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49,XXXXX syndrome

Annales de génétique, 1982, Vol.25 (3), p.145

1982

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Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type

Radiology, 1981-09, Vol.140 (3), p.697-700

1981

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Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9) (pter yields p12:)

Annales de génétique, 1979, Vol.22 (3), p.155

1979

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Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder

Clinical genetics, 1980-09, Vol.18 (3), p.153-159

1980

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Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome

Clinical genetics, 1986-12, Vol.30 (6), p.456-461

1986

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Some clinical and cytogenetic observations on a ring chromosome 13 (p11 q34)

Annales de génétique, 1979, Vol.22 (4), p.221

1979

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Frontonasal dysplasia in the Klippel-Feil syndrome: A new associated malformation

Clinical genetics, 1982-11, Vol.22 (5), p.270-273

1982

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A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity

Human genetics, 1982-02, Vol.60 (1), p.36-41

1982

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Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies

Clinical genetics, 1982-10, Vol.22 (4), p.172-179

1982

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Guadalajara camptodactyly syndrome type II

Clinical genetics, 1985-07, Vol.28 (1), p.54-60

1985

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Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the Rozin camptodactyly syndrome

Reciprocal Modulation of Matrix Metalloproteinase-13 and Type I Collagen Genes in Rat Hepatic Stellate Cells

Osteopoikilosis: report of a familial case

Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects A new syndrome?

Esophagopericardial fistula attributed to a barogenic rupture of the esophagus. Report of a case and review of the literature

SED-brachydactyly and distinctive speech: report of two new cases

Christian's spondylo-digital syndrome: second familial case

Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads

A probably distinct autosomal recessive thoraco-limb dysplasia

Congenital bilateral temporomandibular joint ankylosis. A probable hereditary malformation

A distinct dysmorphic syndrome with congenital glaucoma and probable autosomal recessive inheritance

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Further delineation of a new genetic syndrome

Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: A distinct autosomal-recessive disorder

Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition

Autosomal dominant congenital macroglossia: further delineation of the syndrome

49,XXXXX syndrome

Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type

Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9) (pter yields p12:)

Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder

Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome

Some clinical and cytogenetic observations on a ring chromosome 13 (p11 q34)

Frontonasal dysplasia in the Klippel-Feil syndrome: A new associated malformation

A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity

Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies

Guadalajara camptodactyly syndrome type II

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